Defects in intrinsic and innate immunity: Difference between revisions

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Immunodeficiency Affecting Cellular and Humoral Immunity
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Diseases of Immune Dysregulation
Congenital Defects of Phagocytes
Defects in Intrinsic and Innate Immunity
Auto-inflammatory Disorders
Complement Deficiencies
Phenocopies of Primary Immunodeficiency

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Latest revision as of 23:07, 28 January 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD [3], Anmol Pitliya, M.B.B.S. M.D.[4]

Overview

Defects in intrinsic and innate immunity can result in infection by bacteria, viruses, and fungi.

Classification

Defects in Intrinsic & Innate Immunity

(A) Bacterial and Parasitic Infections

(B) MSMD & Viral Infections

Bacterial and Parasitic infections

Defects in Intrinsic & Innate Immunity: (A) Bacterial and Parasitic Infections

Predisposition to Invasive Bacterial Infections (pyrogens)

Predisposition to Parasitic & Fungal Infections

Others

IRAK4 Deficiency, IRAK4, AR, MyD88 Deficiency, MYD88, AR

Osteopetrosis

IRAK-1 Deficiency:IRAK1,XL

Predisposition to mucocutaneous candidiasis(CMC)

CARD9 Deficiency, CARD9, AR

Hyderadenitis Suppurativa

TIRAP Deficiency, TIRAP, AR

STAT1 GOF, STAT1, AD

Trypanosomiasis APOL1, AD

Acute liver failure due to NBAS deficiency, NBAS, AR

Isolated Congenital Asplenia, RPSA, AD; HMOX, AR

IL-17F Deficiency, IL-17F, AD

Acute necrotizing encephalopathy, RANBP2, AD

IL-17RA Deficiency, IL-17RA, AR

IL-17RC Deficiency, IL-17RC, AR

ACT1 Deficiency, ACT1, AR

MSMD and Viral Infections

Defects in Intrinsic & Innate Immunity: (B) MSMD & Viral Infections

Mendelian susceptibility to mycobacterial disease(MSMD)

Predominant susceptibility to viral infections

Severe Phenotypes

Moderate Phenotypes

Epidermodysplasia verruciformis(HPV)

Predisposition to severe viral infections

Herpes simplex encephalitis

Complete IFNGR1 def: and IFNGR2 def:, IFNGR1,IFNGR2,AR

IL12 & 23 receptor B1 chain def:, IL12P40 def:, STAT1 LOF, Partial IFNYR1 & 2, AD IFNGR1, TyK2 def:

EVER1 def:, TMC6, AR

STAT1 def: (AR LOF)

ISG15 def:, ISG15,AR; Macrophage Gp91 Phox def:CYBB,XL,IRG8 def:,IRF8,AD; IRF8 def:, IRF8 AR; RORc def:, ROCR,AR; JACK1(LOF),JAK1,AR

EVER2 def:, TMC8,AR

STAT2 def: (STAT2 AR)

WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) Syndrome, CXCR4, AD,GOF

IRF7 def: (IRF7,AR)

IFNAR2 def: (IFNAR2,AR)

CD16 def: (FCGR3A,AR)

MDA5 def: (LOF), IFIH1,AR

IRAK4 Deficiency

IRAK4 (interleukin 1 receptor associated kinase 4) gene located on chromosome 12q12 encodes a kinase that activates NF-kappaB in both the toll-like receptor (TLR) and T-cell receptor (TCR) signalling pathways. The protein is essential for most innate immune responses.^[1]
IRAK4 deficiency presents with recurrent noninvasive and invasive bacterial infections especially with pseudomonas aeruginosa, staphylococcus aureus and pneumococcus, and poor inflammatory response.^[2]^[3]
Treatment includes; management of complications, antibiotic prophylaxis and pneumococcal vaccine.^[3]

IRAK1 Deficiency

IRAK1 (interleukin 1 receptor associated kinase 1) gene located on chromosome Xq28 encodes one of two putative serine/threonine kinases that become associated with interleukin 1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL-1 induced upregulation of transcription factor NF-kappaB.^[4]
IRAK1 deficiency can present with SLE like syndrome, autoimmunity, IgM & IgG autoantibodies, lymphocytic activation and renal disease.^[5]

TIRAP Deficiency

TIRAP (TIR domain containing adaptor protein) gene located on chromosome 11q24.2 encodes a toll interleukin 1 receptor (TIR) protein involved in TLR4 signalling pathway of immune system. It activates NF-kappaB, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response.^[6]
TIRAP deficiency can present with disordered innate immune responses and life threatening staphylococcal disease.^[7]
Treatment includes; prophylactic antibiotics, vaccinations and immunoglobulin replacement therapy.^[8]

RPSA Deficiency

RPSA (ribosomal protein SA) gene located on chromosome 3p22.1 encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts.^[9]
RPSA haploinsufficiency causes isolated congenital asplenia (ICA) with life threatening bacterial infections.^[10]
Treatment includes; pneumococcal vaccine, antibiotic prophylaxis, preemptive investigation and emperic treatment early in the course of disease.^[11]

STAT1 GOF

STAT1 (signal transducer & activator of transcription 1) gene located on chromosome 2q32.2 encodes a protein member of the STAT protein family. When activated, STAT family members translocate to the cell nucleus where they act as transcription activators. It is activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6 and is thought to be important for cell viability in response to different cell stimuli and pathogens.^[12]
STAT1 GOF (gain of function) mutation can present with chronic mucocutaneous candidiasis (CMC), autoimmune thyroid & skin disease,cerebral aneurysms, squamous cell carcinoma and bone fragility.^[13]
Treatment includes; antibiotic prophylaxis, IgG infusion, ruxolitinib and hematopoietic stem cell transplantation (HST).^[14]

IL17F Deficiency

IL17F (interleukin 17F) gene located on chromosome 6p12.2 encodes a protein cytokine that shares sequence similarity with IL17. It is expressed by activated T cells and stimulates the production of several other cytokines including IL6, IL8 and CSF2/GM_CSF. It also inhibits angiogensis of endothelial cells.^[15]
IL17F deficiency can cause; recurrent mucocutaneous candidiasis, recurrent aphthous stomatitis (RAS) and enterovirus 71 (EV71) infection causing hand foot & mouth disease (HFMD).^[16]^[17]
Treatment includes; management of the complications and immunosuppressive drugs.^[18]

IL17RA Deficiency

IL17RA (interleukin 17 receptor A) gene located on chromosome 22q11.1 encodes a transmembrane protein which is a ubiquitous type1 membrane glycoprotein that binds with low affinity to IL17A. IL17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases like rheumatoid arthritis.^[19]
IL17RA deficiency is an autosomal recessive disease can present with chronic mucocutaneous candidiasis, staphylococcal infections and atopic dermatitis (AD).^[20]^[21]
Treatment includes; antibiotic prophylaxis and immunosuppressive drugs.^[22]

IL17RC Deficiency

IL17RC (interleukin 17 receptor C) gene located on chromosome 3p25.3 encodes a single pass type 1 membrane protein that shares similarity with IL17RA. It is expressed predominantly in hematopoietic cells and binds with high affinity to only IL17A.^[23]
IL17RC deficiency is associated with chronic mucocutaneous candidiasis (CMC) and rarely adolescent idiopathic scoliosis (AIS). The overexpression of IL17RC is associated with ocular sarcoidosis.^[24]^[25]^[26]
Treatment includes; antibiotic prophylaxis and immunoglobulin therapy.^[27]

ACT1 Deficiency

ACT1 also called TRAF3 interacting protein2 gene located on chromosome 6q21 encodes a protein involved in regulating responses to cytokines by members of Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress.^[28]
ACT1 deficiency can be associated with various autoimmune diseases including sjogren's syndrome, SLE-like nephritis and psoriasis vulgaris.^[29]^[30]

CARD9 Deficiency

CRAD9 (caspase recruitment domain family member9) gene located on chromosome 9q34.3 encodes a protein member of CARD family that plays an important regulatory role in cell apoptosis.^[31]
CARD9 deficiency can present with chronic mucocutaneous candidiasis (CMC), treatment resistant cutaneous dermatophytosis and candida endophthalmitis.^[32]^[33]
Treatment includes; supportive management, granulocyte-monocyte colony stimulating factor (GM-CSF) and hematopoietic stem cell transplantation (HST).^[34]

Trypanosomiasis (APOL1)

Humans are naturally resistant to infection by african trypanosome prototype, trypanosoma brucei brucei. This resistance is due to the activity of ApoL1.^[35]
ApoL1 (apolipoprotein L-1) shares structural and functional similarities with apoptotic Bcl2 family and to kill the trypanosomes through anionic pore formation in the lysosomal membrane of the parasite.^[36]
ApoL1 deficiency therefore leads to reduced or absent protection against trypanosoma brucei.^[37]
African trypanosomiasis/sleeping sickness is transmitted to humans by bite of tsetse fly.^[38]
Its clinical presentation evolves through local symptoms (trypanosomal chancre at bite site) to first stage (fever,lymphadenopathy, hepatosplenomegaly, faint rash) to second stage (chronic encephalopathy with headache & mental changes) leading to terminal somnolent stage.^[39]
Treatment includes; pentamidine, enflornithine, melarsoprol, suramin and nifurtimox with melarsoprol. ^[40]
For more information on trypanosomiasis click here.

Osteopetrosis

Osteopetrosis/Marble bone disease/Albers-Schonberg disease is caused by failure of osteoclast development or function and mutations in atleast 10 genes have been identified as causative in humans.^[41]
Osteopetrosis can be transmitted as autosomal recesve, autosomal dominant or X linked.^[42]
It can present as fractures, short stature,compressive neuropathies, hypocalcemia with tetanic seizures and life threatening pancytopenia.^[43]
Treatment is mainly symptomatic, hematopoietic stem cell transplantation (HST) increases the chances of long term survival.^[44]
For more information on osteopetrosis click here.

Hidradenitis Suppurativa

Hidradenitis suppurativa/acne inversa/verneuil disease is a chronic, inflammatory, recurrent, debilitating skin disease of folliculosebaceopilus unit.^[45]
It presents with painful, deep seated, inflamed lesions in apocrine gland bearing areas of body such as axila, inguinal and anogenital regions. They are painful or suppurating lesions including nodules, abscesses, draining sinus tracts and scarring can be observed.^[46]
Treatment includes; topical antibiotics (clindamycin) and systemic treatments (clindamycin-rifampicin, tetracycline, ertapenem, rifampicin-moxifloxacin-metronidazole, acitretin, cyclosporin A, dapsone, isotretrinoin and infliximab).^[47]
For more information on hidradenitis suppurativa click here.

NBAS Deficiency

NBAS (neuroblastoma amplified sequence) gene located on chromosome 2p24.3 encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain & Sec39 like domain. It is thought to be involved in Golgi-to-ER transport.^[48]
NBAS deficiency can present with recurrent infections, hypogammaglobulinemia, reduced natural killer cells, pelger huet anomaly and acute liver failure.^[49]^[50]
Treatment includes; antipyretics, intravenous antibiotics, intravenous fluids with high glucose and lipids to prevent fulminant damage.^[51]

RANBP2 Deficiency

RANBP2 (RAN binding protein 2) gene located on chromosome 2q13 encodes a component of nuclear pore complex and plays a role in facilitation of import and export, sumoylation of protein cargoes, intracellular trafficking and energy maintenance.^[52]
RANBP2 deficiency can present with acute necrotizing encephalopathy.^[53]
Treatment includes methylprednisolone and immunomodulatory drugs may also be tried.^[53]

IFNGR1 Deficiency

IFNGR1 (interferon gamma receptor 1) gene located on chromosome 6q23.3 encodes the ligand binding chain (alpha) of the gamma interferon receptor. Human interferon gamma receptor is a heterodimer of IFNGR1 and IFNGR2.^[54]
IFNGR1 deficiency is an autosomal recessive disease presenting with severe nontuberculous mycobaterial infections (mendelian susceptibility to mycobacterial infections) and helicobacter pylori infections.^[55]^[56]
Treatment of choice includes hematopoietic stem cell gene therapy, as the recombinant interferon gamma therapy and hematopoietic stem cell transplantation were ineffective.^[57]

IL12 & IL23 Receptor B1 Chain Deficiency

IL12b gene located on chromosome 5q23.3 encodes a subunit of interleukin 12, a cytokine that acts on T ad NK cells and has a wide array of biological activities. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development.^[58]
Its deficiency can lead to mycobacterial infections, takayasu arteritis, increased risk of ovarian endometriosis and increased hepatic cirrhosis in hepatitis C.^[59]^[60]^[61]

ISG15 Deficiency

ISG15 (interferon stimualated gene 15) gene located on chromosome 1p36.33 encodes a ubiquitin like protein that is conjugated to intracellular target proteins upon activation by INF-alpha & INF-beta. It has several functions including chemotactic activity towards neutrophils, direction of ligand target proteins to intermediate filaments, cell to cell signalling and antiviral activity during viral infections.^[62]
ISG15 deficiency can lead to mendelian susceptibility to mycobaterial disease (MSMD) and salmonella infections.^[63]

EVER1 Deficiency

EVER1 (transmembrane channel like 6) gene located on chromosome 17q25.3 encodes integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. It encodes a transmembrane channel like protein with 10 transmembrane domains and 2 leucine zipper motifs.^[64]
EVER1 deficiency is associated with epidermodysplasia verruciformis (EV) which is characterized by abnormal susceptibility to human papillomaviruses and multiple squamous cell carcinomas (SCC) of sun exposed areas of skin.^[65]

EVER2 Deficiency

EVER2 (transmembrane channel like 8) gene located on chromosome 17q25.3 encodes integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. it encodes a transmembrane channel like protein with 8 predicted transmembrane domains and 3 leucine zippers motifs.^[66]
EVER2 deficiency can present with epidermodysplasia verruciformis (EV), HPV infection and head & neck squamous cell carcinomas.^[67]^[68]

WHIM Syndrome

WHIM (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome is a genetic disease characterized by neutropenia, lymphopenia, susceptibility to infections and myelokathexis is caused by mutation in the CXCR4 gene.^[69]
CXCR4 (c-x-c motif chemokine receptor4) gene located on chromosome 2q22.1 encodes a CXC chemokine receptor specific for stromal cell derived factor1. The protein has 7 transmembrane regions & is located on cell surface. It acts with CD4 protein to support HIV entry into the cells & is also highly expressed in breast cancer cells.^[70]
Treatment options include; granulocyte-colony stimulating factor (G-CSF), granulocyte-monocyte-colony stimulating factor (GM-CSF), plerixafor (AMD3100) and allogenic stem cell transplantation.^[71]

STAT1 Deficiency

STAT1 (signal transducer & activator of transcription 1) gene located on chromosome 2q32.2 encodes a protein member of the STAT protein family. When activated, STAT family members translocate to the cell nucleus where they act as transcription activators. It is activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6 and is thought to be important for cell viability in response to different cell stimuli and pathogens.^[72]
STAT1 deficiency (loss of function mutation) can present with predisposition to intracellular (mycobacterial) and viral infections.^[73]

STAT2 Deficiency

STAT2 (signal transducer & activator of transcription 2) gene located on chromosome 12q13.3 encodes for a protein member of STAT protein family, when activated translocates to the cell necleus and act as transcription activators.In response to interferon, this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator.^[74]
STAT2 deficiency can present with severe viral infections, including measles in children.^[75]

IRF7 Deficiency

IRF7 (interferon regulatory factor 7) gene located on chromosome 11p15.5 encodes IRF7. It play a role in the transcriptional activation of virus inducible cellular genes, including interferon beta chain genes. Its expression is largely restricted to lymphoid tissue.^[76]
IRF7 deficiency can present with severe viral infections including life threatening influenza.^[77]

CD16 Deficiency

CD16 also called FCGR3A (Fc Fragement of IgG Receptor IIIa) gene located on chromosome 1q23.3 encodes a receptor for Fc portion of IgG, which is involved in the removal of antigen-antibody complexes from the circulation as well as other antibody dependant responses.^[78]
CD16 deficiency presents with severe viral infections including life threatening herpes virus infections.^[79]

MDA5 Deficiency

MDA5 (melanoma differentiation associated gene 5) also called as IFIH1 (interferon induced helicase C domain containing prtein 1) gene located on chromosome 2q24.2 encodes a DEAD box proteins and is implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear & mitochondrial splicing and ribosome & spliceosome assembly.^[80]
MDA5 deficiency can lead to recurrent and severe viral infections.^[81]

Herpes Simplex Encephalitis

Herpes simplex encephalitis is an infection of the brain parenchyma cause by a double stranded DNA virus called herpes simplex virus 1(HSV1), which gains access to human body through mucous membranes or damaged skin.^[82]
It can present as fever, new seizures, altered mental status, focal neurological signs, CSF pleocytosis and contrast enhancing lesions on MRI.^[83]
Treatment includes IV acyclovir for 14 to 21 days.^[84]
For further information of herpes simplex encephalitis click here.

References

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↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
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↑ Shigeo Iijima (2017). "Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review". BMC infectious diseases. 17 (1): 777. doi:10.1186/s12879-017-2896-5. PMID 29254492. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachee-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stephane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova & Anne Puel (2016). "Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype". Blood. 127 (25): 3154–3164. doi:10.1182/blood-2015-11-679902. PMID 27114460. Unknown parameter |month= ignored (help)
↑ Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachee-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stephane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova & Anne Puel (2016). "Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype". Blood. 127 (25): 3154–3164. doi:10.1182/blood-2015-11-679902. PMID 27114460. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Fei Li, Peipei Liu, Ya Guo, Zhenliang Han, Yedan Liu, Yuanyuan Wang, Long Song, Jianguo Cheng & Zongbo Chen (2018). "Association of Interleukin-17F gene polymorphisms with susceptibility to severe enterovirus 71 infection in Chinese children". Archives of virology. 163 (7): 1933–1939. doi:10.1007/s00705-018-3807-9. PMID 29549443. Unknown parameter |month= ignored (help)
↑ Alireza Zare Bidoki, Ahmad Massoud, Shamsolmoulouk Najafi, Mahsa Mohammadzadeh & Nima Rezaei (2018). "Autosomal dominant deficiency of the interleukin-17F in recurrent aphthous stomatitis: Possible novel mutation in a new entity". Gene. 654: 64–68. doi:10.1016/j.gene.2018.02.041. PMID 29458167. Unknown parameter |month= ignored (help)
↑ Anna R. Huppler, Shrinivas Bishu & Sarah L. Gaffen (2012). "Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy". Arthritis research & therapy. 14 (4): 217. doi:10.1186/ar3893. PMID 22838497. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Achilleas Floudas, Sean P. Saunders, Tara Moran, Christian Schwartz, Emily Hams, Denise C. Fitzgerald, James A. Johnston, Graham S. Ogg, Andrew N. McKenzie, Patrick T. Walsh & Padraic G. Fallon (2017). "IL-17 Receptor A Maintains and Protects the Skin Barrier To Prevent Allergic Skin Inflammation". Journal of immunology (Baltimore, Md. : 1950). 199 (2): 707–717. doi:10.4049/jimmunol.1602185. PMID 28615416. Unknown parameter |month= ignored (help)
↑ Romain Levy, Satoshi Okada, Vivien Beziat, Kunihiko Moriya, Caini Liu, Louis Yi Ann Chai, Melanie Migaud, Fabian Hauck, Amein Al Ali, Cyril Cyrus, Chittibabu Vatte, Turkan Patiroglu, Ekrem Unal, Marie Ferneiny, Nobuyuki Hyakuna, Serdar Nepesov, Matias Oleastro, Aydan Ikinciogullari, Figen Dogu, Takaki Asano, Osamu Ohara, Ling Yun, Erika Della Mina, Didier Bronnimann, Yuval Itan, Florian Gothe, Jacinta Bustamante, Stephanie Boisson-Dupuis, Natalia Tahuil, Caner Aytekin, Aicha Salhi, Saleh Al Muhsen, Masao Kobayashi, Julie Toubiana, Laurent Abel, Xiaoxia Li, Yildiz Camcioglu, Fatih Celmeli, Christoph Klein, Suzan A. AlKhater, Jean-Laurent Casanova & Anne Puel (2016). "Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency". Proceedings of the National Academy of Sciences of the United States of America. 113 (51): E8277–E8285. doi:10.1073/pnas.1618300114. PMID 27930337. Unknown parameter |month= ignored (help)
↑ Romain Levy, Satoshi Okada, Vivien Beziat, Kunihiko Moriya, Caini Liu, Louis Yi Ann Chai, Melanie Migaud, Fabian Hauck, Amein Al Ali, Cyril Cyrus, Chittibabu Vatte, Turkan Patiroglu, Ekrem Unal, Marie Ferneiny, Nobuyuki Hyakuna, Serdar Nepesov, Matias Oleastro, Aydan Ikinciogullari, Figen Dogu, Takaki Asano, Osamu Ohara, Ling Yun, Erika Della Mina, Didier Bronnimann, Yuval Itan, Florian Gothe, Jacinta Bustamante, Stephanie Boisson-Dupuis, Natalia Tahuil, Caner Aytekin, Aicha Salhi, Saleh Al Muhsen, Masao Kobayashi, Julie Toubiana, Laurent Abel, Xiaoxia Li, Yildiz Camcioglu, Fatih Celmeli, Christoph Klein, Suzan A. AlKhater, Jean-Laurent Casanova & Anne Puel (2016). "Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency". Proceedings of the National Academy of Sciences of the United States of America. 113 (51): E8277–E8285. doi:10.1073/pnas.1618300114. PMID 27930337. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Wenting Wu, Ming Jin, Yujuan Wang, Baoying Liu, Defen Shen, Ping Chen, Susan Hannes, Zhiyu Li, Sima Hirani, Shayma Jawad, H. Nida Sen, Chi-Chao Chan, Robert B. Nussenblatt & Lai Wei (2014). "Overexpression of IL-17RC associated with ocular sarcoidosis". Journal of translational medicine. 12: 152. doi:10.1186/1479-5876-12-152. PMID 24885153. Unknown parameter |month= ignored (help)
↑ Song Zhou, Xu-Sheng Qiu, Ze-Zhang Zhu, Wei-Fei Wu, Zhen Liu & Yong Qiu (2012). "A single-nucleotide polymorphism rs708567 in the IL-17RC gene is associated with a susceptibility to and the curve severity of adolescent idiopathic scoliosis in a Chinese Han population: a case-control study". BMC musculoskeletal disorders. 13: 181. doi:10.1186/1471-2474-13-181. PMID 22999050. Unknown parameter |month= ignored (help)
↑ Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Aziz Belkadi, Romain Levy, Melanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova & Anne Puel (2015). "Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis". The Journal of experimental medicine. 212 (5): 619–631. doi:10.1084/jem.20141065. PMID 25918342. Unknown parameter |month= ignored (help)
↑ Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Aziz Belkadi, Romain Levy, Melanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova & Anne Puel (2015). "Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis". The Journal of experimental medicine. 212 (5): 619–631. doi:10.1084/jem.20141065. PMID 25918342. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Youcun Qian, Natalia Giltiay, Jianhua Xiao, Yue Wang, Jun Tian, Shuhua Han, Martin Scott, Robert Carter, Trine N. Jorgensen & Xiaoxia Li (2008). "Deficiency of Act1, a critical modulator of B cell function, leads to development of Sjogren's syndrome". European journal of immunology. 38 (8): 2219–2228. doi:10.1002/eji.200738113. PMID 1862435. Unknown parameter |month= ignored (help)
↑ Mitsuha Hayashi, Tomomitsu Hirota, Hidehisa Saeki, Hidemi Nakagawa, Yozo Ishiuji, Hiroyuki Matsuzaki, Yuichiro Tsunemi, Toyoaki Kato, Sayaka Shibata, Makoto Sugaya, Shinichi Sato, Yayoi Tada, Satoru Doi, Akihiko Miyatake, Kouji Ebe, Emiko Noguchi, Tamotsu Ebihara, Masayuki Amagai, Hitokazu Esaki, Satoshi Takeuchi, Masutaka Furue & Mayumi Tamari (2014). "Genetic polymorphism in the TRAF3IP2 gene is associated with psoriasis vulgaris in a Japanese population". Journal of dermatological science. 73 (3): 264–265. doi:10.1016/j.jdermsci.2013.11.012. PMID 24373565. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Christina Gavino, Sibylle Mellinghoff, Oliver A. Cornely, Marija Landekic, Catherine Le, Melanie Langelier, Makan Golizeh, Susanna Proske & Donald C. Vinh (2018). "Novel bi-allelic splice mutations in CARD9 causing adult-onset Candida endophthalmitis". Mycoses. 61 (1): 61–65. doi:10.1111/myc.12701. PMID 28984994. Unknown parameter |month= ignored (help)
↑ Ana Karina Alves de Medeiros, Evelyn Lodewick, Delfien J. A. Bogaert, Filomeen Haerynck, Sabine Van Daele, Bart Lambrecht, Sara Bosma, Laure Vanderdonckt, Olivier Lortholary, Melanie Migaud, Jean-Laurent Casanova, Anne Puel, Fanny Lanternier, Jo Lambert, Lieve Brochez & Melissa Dullaers (2016). "Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency". Journal of clinical immunology. 36 (3): 204–209. doi:10.1007/s10875-016-0255-8. PMID 26961233. Unknown parameter |month= ignored (help)
↑ Hengst, Meike; Naehrlich, Lutz; Mahavadi, Poornima; Grosse-Onnebrink, Joerg; Terheggen-Lagro, Suzanne; Skanke, Lars Høsøien; Schuch, Luise A.; Brasch, Frank; Guenther, Andreas; Reu, Simone; Ley-Zaporozhan, Julia; Griese, Matthias (2018). "Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood". Orphanet Journal of Rare Diseases. 13 (1). doi:10.1186/s13023-018-0780-z. ISSN 1750-1172.
↑ Etienne Pays & Benoit Vanhollebeke (2009). "Human innate immunity against African trypanosomes". Current opinion in immunology. 21 (5): 493–498. doi:10.1016/j.coi.2009.05.024. PMID 19559585. Unknown parameter |month= ignored (help)
↑ David Perez-Morga, Benoit Vanhollebeke, Francoise Paturiaux-Hanocq, Derek P. Nolan, Laurence Lins, Fabrice Homble, Luc Vanhamme, Patricia Tebabi, Annette Pays, Philippe Poelvoorde, Alain Jacquet, Robert Brasseur & Etienne Pays (2005). "Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes". Science (New York, N.Y.). 309 (5733): 469–472. doi:10.1126/science.1114566. PMID 16020735. Unknown parameter |month= ignored (help)
↑ Bart Cuypers, Laurence Lecordier, Conor J. Meehan, Frederik Van den Broeck, Hideo Imamura, Philippe Buscher, Jean-Claude Dujardin, Kris Laukens, Achim Schnaufer, Caroline Dewar, Michael Lewis, Oliver Balmer, Thomas Azurago, Sardick Kyei-Faried, Sally-Ann Ohene, Boateng Duah, Prince Homiah, Ebenezer Kofi Mensah, Francis Anleah, Jose Ramon Franco, Etienne Pays & Stijn Deborggraeve (2016). "Apolipoprotein L1 Variant Associated with Increased Susceptibility to Trypanosome Infection". mBio. 7 (2): e02198–e02115. doi:10.1128/mBio.02198-15. PMID 27073096. Unknown parameter |month= ignored (help)
↑ August Stich, Paulo M. Abel & Sanjeev Krishna (2002). "Human African trypanosomiasis". BMJ (Clinical research ed.). 325 (7357): 203–206. PMID 12142311. Unknown parameter |month= ignored (help)
↑ August Stich, Paulo M. Abel & Sanjeev Krishna (2002). "Human African trypanosomiasis". BMJ (Clinical research ed.). 325 (7357): 203–206. PMID 12142311. Unknown parameter |month= ignored (help)
↑ August Stich, Paulo M. Abel & Sanjeev Krishna (2002). "Human African trypanosomiasis". BMJ (Clinical research ed.). 325 (7357): 203–206. PMID 12142311. Unknown parameter |month= ignored (help)
↑ Zornitza Stark & Ravi Savarirayan (2009). "Osteopetrosis". Orphanet journal of rare diseases. 4: 5. doi:10.1186/1750-1172-4-5. PMID 19232111. Unknown parameter |month= ignored (help)
↑ Mininder S. Kocher & James R. Kasser (2003). "Osteopetrosis". American journal of orthopedics (Belle Mead, N.J.). 32 (5): 222–228. PMID 12772872. Unknown parameter |month= ignored (help)
↑ Zornitza Stark & Ravi Savarirayan (2009). "Osteopetrosis". Orphanet journal of rare diseases. 4: 5. doi:10.1186/1750-1172-4-5. PMID 19232111. Unknown parameter |month= ignored (help)
↑ Zornitza Stark & Ravi Savarirayan (2009). "Osteopetrosis". Orphanet journal of rare diseases. 4: 5. doi:10.1186/1750-1172-4-5. PMID 19232111. Unknown parameter |month= ignored (help)
↑ H. Kurzen, I. Kurokawa, G. B. E. Jemec, L. Emtestam, K. Sellheyer, E. J. Giamarellos-Bourboulis, I. Nagy, F. G. Bechara, K. Sartorius, J. Lapins, D. Krahl, P. Altmeyer, J. Revuz & C. C. Zouboulis (2008). "What causes hidradenitis suppurativa?". Experimental dermatology. 17 (5): 455–456. doi:10.1111/j.1600-0625.2008.00712_1.x. PMID 18400064. Unknown parameter |month= ignored (help)
↑ Nicolo Scuderi, Ambra Monfrecola, Luca Andrea Dessy, Gabriella Fabbrocini, Matteo Megna & Giuseppe Monfrecola (2017). "Medical and Surgical Treatment of Hidradenitis Suppurativa: A Review". Skin appendage disorders. 3 (2): 95–110. doi:10.1159/000462979. PMID 28560220. Unknown parameter |month= ignored (help)
↑ Maddalena Napolitano, Matteo Megna, Elena A. Timoshchuk, Cataldo Patruno, Nicola Balato, Gabriella Fabbrocini & Giuseppe Monfrecola (2017). "Hidradenitis suppurativa: from pathogenesis to diagnosis and treatment". Clinical, cosmetic and investigational dermatology. 10: 105–115. doi:10.2147/CCID.S111019. PMID 28458570.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Nuria Garcia Segarra, Diana Ballhausen, Heather Crawford, Matthieu Perreau, Belinda Campos-Xavier, Karin van Spaendonck-Zwarts, Cees Vermeer, Michel Russo, Pierre-Yves Zambelli, Brian Stevenson, Beryl Royer-Bertrand, Carlo Rivolta, Fabio Candotti, Sheila Unger, Francis L. Munier, Andrea Superti-Furga & Luisa Bonafe (2015). "NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina". American journal of medical genetics. Part A. 167A (12): 2902–2912. doi:10.1002/ajmg.a.37338. PMID 26286438. Unknown parameter |month= ignored (help)
↑ Jia-Qi Li, Yi-Ling Qiu, Jing-Yu Gong, Li-Min Dou, Yi Lu, A. S. Knisely, Mei-Hong Zhang, Wei-Sha Luan & Jian-She Wang (2017). "Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study". BMC gastroenterology. 17 (1): 77. doi:10.1186/s12876-017-0636-3. PMID 28629372. Unknown parameter |month= ignored (help)
↑ Christian Staufner, Tobias B. Haack, Marlies G. Kopke, Beate K. Straub, Stefan Kolker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Dominic Lenz, Joachim Kuhr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, John A. Ozolek, Johannes Zschocke, Alice Kuster, Anke Dick, Anib M. Das, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Holger Prokisch & Georg F. Hoffmann (2016). "Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts". Journal of inherited metabolic disease. 39 (1): 3–16. doi:10.1007/s10545-015-9896-7. PMID 26541327. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ ^53.0 ^53.1 Singh, Rahul R.; Sedani, Sagar; Lim, Ming; Wassmer, Evangeline; Absoud, Michael (2015). "RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype". European Journal of Paediatric Neurology. 19 (2): 106–113. doi:10.1016/j.ejpn.2014.11.010. ISSN 1090-3798.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Esther van de Vosse & Jaap T. van Dissel (2017). "IFN-gammaR1 defects: Mutation update and description of the IFNGR1 variation database". Human mutation. 38 (10): 1286–1296. doi:10.1002/humu.23302. PMID 28744922. Unknown parameter |month= ignored (help)
↑ Pau Morey, Lennart Pfannkuch, Ervinna Pang, Francesco Boccellato, Michael Sigal, Aki Imai-Matsushima, Victoria Dyer, Manuel Koch, Hans-Joachim Mollenkopf, Philipp Schlaermann & Thomas F. Meyer (2018). "Helicobacter pylori Depletes Cholesterol in Gastric Glands to Prevent Interferon Gamma Signaling and Escape the Inflammatory Response". Gastroenterology. 154 (5): 1391–1404. doi:10.1053/j.gastro.2017.12.008. PMID 29273450. Unknown parameter |month= ignored (help)
↑ Miriam Hetzel, Adele Mucci, Patrick Blank, Ariane Hai Ha Nguyen, Jan Schiller, Olga Halle, Mark-Philipp Kuhnel, Sandra Billig, Robert Meineke, Daniel Brand, Vanessa Herder, Wolfgang Baumgartner, Franz-Christoph Bange, Ralph Goethe, Danny Jonigk, Reinhold Forster, Bernhard Gentner, Jean-Laurent Casanova, Jacinta Bustamante, Axel Schambach, Ulrich Kalinke & Nico Lachmann (2018). "Hematopoietic stem cell gene therapy for IFNgammaR1 deficiency protects mice from mycobacterial infections". Blood. 131 (5): 533–545. doi:10.1182/blood-2017-10-812859. PMID 29233822. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Pallipamu Prakash Babu, Pasupuleti Santhosh Kumar, Alladi Mohan, Bhattaram Siddhartha Kumar & Potukuchi Venkata Gurunadha Krishna Sarma (2017). "Novel mutations in the exon 5, intron 2 and 3' UTR regions of IL-12B gene were observed in clinically proven tuberculosis patients of south India". Cytokine. 99: 50–58. doi:10.1016/j.cyto.2017.07.003. PMID 28697396. Unknown parameter |month= ignored (help)
↑ Toshiki Nakajima, Hajime Yoshifuji, Masakazu Shimizu, Koji Kitagori, Kosaku Murakami, Ran Nakashima, Yoshitaka Imura, Masao Tanaka, Koichiro Ohmura, Fumihiko Matsuda, Chikashi Terao & Tsuneyo Mimori (2017). "A novel susceptibility locus in the IL12B region is associated with the pathophysiology of Takayasu arteritis through IL-12p40 and IL-12p70 production". Arthritis research & therapy. 19 (1): 197. doi:10.1186/s13075-017-1408-8. PMID 28874185. Unknown parameter |month= ignored (help)
↑ Wei Zhao, Yan Li, Jian Zhao & Shan Kang (2018). "A functional promoter polymorphism in interleukin 12B gene is associated with an increased risk of ovarian endometriosis". Gene. 666: 27–31. doi:10.1016/j.gene.2018.04.082. PMID 29738836. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Dusan Bogunovic, Minji Byun, Larissa A. Durfee, Avinash Abhyankar, Ozden Sanal, Davood Mansouri, Sandra Salem, Irena Radovanovic, Audrey V. Grant, Parisa Adimi, Nahal Mansouri, Satoshi Okada, Vanessa L. Bryant, Xiao-Fei Kong, Alexandra Kreins, Marcela Moncada Velez, Bertrand Boisson, Soheila Khalilzadeh, Ugur Ozcelik, Ilad Alavi Darazam, John W. Schoggins, Charles M. Rice, Saleh Al-Muhsen, Marcel Behr, Guillaume Vogt, Anne Puel, Jacinta Bustamante, Philippe Gros, Jon M. Huibregtse, Laurent Abel, Stephanie Boisson-Dupuis & Jean-Laurent Casanova (2012). "Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency". Science (New York, N.Y.). 337 (6102): 1684–1688. doi:10.1126/science.1224026. PMID 22859821. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Baki Akgul, Osman Kose, Mukerrem Safali, Karin Purdie, Rino Cerio, Charlotte Proby & Alan Storey (2007). "A distinct variant of Epidermodysplasia verruciformis in a Turkish family lacking EVER1 and EVER2 mutations". Journal of dermatological science. 46 (3): 214–216. doi:10.1016/j.jdermsci.2007.01.002. PMID 17306964. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ E. Imahorn, Z. Yuksel, I. Spoerri, G. Gurel, C. Imhof, Z. N. Saracoglu, A. E. Koku Aksu, P. L. Rady, S. K. Tyring, W. Kempf, P. H. Itin & B. Burger (2017). "Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease". Journal of the European Academy of Dermatology and Venereology : JEADV. 31 (10): 1722–1726. doi:10.1111/jdv.14431. PMID 28646613. Unknown parameter |month= ignored (help)
↑ Caihua Liang, Karl T. Kelsey, Michael D. McClean, Brock C. Christensen, Carmen J. Marsit, Margaret R. Karagas, Tim Waterboer, Michael Pawlita & Heather H. Nelson (2015). "A coding variant in TMC8 (EVER2) is associated with high risk HPV infection and head and neck cancer risk". PloS one. 10 (4): e0123716. doi:10.1371/journal.pone.0123716. PMID 25853559.
↑ Raffaele Badolato & Jean Donadieu (2017). "How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome". Blood. 130 (23): 2491–2498. doi:10.1182/blood-2017-02-708552. PMID 29066537. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Lauren E. Heusinkveld, Erin Yim, Alexander Yang, Ari B. Azani, Qian Liu, Ji-Liang Gao, David H. McDermott & Philip M. Murphy (2017). "Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency". Expert opinion on orphan drugs. 5 (10): 813–825. doi:10.1080/21678707.2017.1375403. PMID 29057173.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Legger, G. Elizabeth; Wulffraat, Nico M.; van Montfrans, Joris M. (2016). "Immunodeficiencies and the Rheumatic Diseases": 597–608.e5. doi:10.1016/B978-0-323-24145-8.00046-6.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Sophie Hambleton, Stephen Goodbourn, Dan F. Young, Paul Dickinson, Siti M. B. Mohamad, Manoj Valappil, Naomi McGovern, Andrew J. Cant, Scott J. Hackett, Peter Ghazal, Neil V. Morgan & Richard E. Randall (2013). "STAT2 deficiency and susceptibility to viral illness in humans". Proceedings of the National Academy of Sciences of the United States of America. 110 (8): 3053–3058. doi:10.1073/pnas.1220098110. PMID 23391734. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Michael J. Ciancanelli, Sarah X. L. Huang, Priya Luthra, Hannah Garner, Yuval Itan, Stefano Volpi, Fabien G. Lafaille, Celine Trouillet, Mirco Schmolke, Randy A. Albrecht, Elisabeth Israelsson, Hye Kyung Lim, Melina Casadio, Tamar Hermesh, Lazaro Lorenzo, Lawrence W. Leung, Vincent Pedergnana, Bertrand Boisson, Satoshi Okada, Capucine Picard, Benedicte Ringuier, Francoise Troussier, Damien Chaussabel, Laurent Abel, Isabelle Pellier, Luigi D. Notarangelo, Adolfo Garcia-Sastre, Christopher F. Basler, Frederic Geissmann, Shen-Ying Zhang, Hans-Willem Snoeck & Jean-Laurent Casanova (2015). "Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency". Science (New York, N.Y.). 348 (6233): 448–453. doi:10.1126/science.aaa1578. PMID 25814066. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Jennifer T. Grier, Lisa R. Forbes, Linda Monaco-Shawver, Jennifer Oshinsky, T. Prescott Atkinson, Curtis Moody, Rahul Pandey, Kerry S. Campbell & Jordan S. Orange (2012). "Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity". The Journal of clinical investigation. 122 (10): 3769–3780. doi:10.1172/JCI64837. PMID 23006327. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nurnberg, Rolf Kaiser, Raoul Heller & Hanno J. Bolz (2017). "Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation". Frontiers in genetics. 8: 130. doi:10.3389/fgene.2017.00130. PMID 29018476.
↑ Michael J. Bradshaw & Arun Venkatesan (2016). "Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management". Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 13 (3): 493–508. doi:10.1007/s13311-016-0433-7. PMID 27106239. Unknown parameter |month= ignored (help)
↑ Michael J. Bradshaw & Arun Venkatesan (2016). "Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management". Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 13 (3): 493–508. doi:10.1007/s13311-016-0433-7. PMID 27106239. Unknown parameter |month= ignored (help)
↑ Michael J. Bradshaw & Arun Venkatesan (2016). "Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management". Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 13 (3): 493–508. doi:10.1007/s13311-016-0433-7. PMID 27106239. Unknown parameter |month= ignored (help)

[1] Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)

[2] Capucine Picard, Anne Puel, Marion Bonnet, Cheng-Lung Ku, Jacinta Bustamante, Kun Yang, Claire Soudais, Stephanie Dupuis, Jacqueline Feinberg, Claire Fieschi, Carole Elbim, Remi Hitchcock, David Lammas, Graham Davies, Abdulaziz Al-Ghonaium, Hassan Al-Rayes, Sulaiman Al-Jumaah, Sami Al-Hajjar, Ibrahim Zaid Al-Mohsen, Husn H. Frayha, Rajivi Rucker, Thomas R. Hawn, Alan Aderem, Haysam Tufenkeji, Soichi Haraguchi, Noorbibi K. Day, Robert A. Good, Marie-Anne Gougerot-Pocidalo, Adrian Ozinsky & Jean-Laurent Casanova (2003). "Pyogenic bacterial infections in humans with IRAK-4 deficiency". Science (New York, N.Y.). 299 (5615): 2076–2079. doi:10.1126/science.1081902. PMID 12637671. Unknown parameter |month= ignored (help)

[TakadaIshimura2016-3] 3.0 ^3.1 Takada, Hidetoshi; Ishimura, Masataka; Takimoto, Tomohito; Kohagura, Toaki; Yoshikawa, Hideto; Imaizumi, Masue; Shichijyou, Koichi; Shimabukuro, Yoko; Kise, Tomoo; Hyakuna, Nobuyuki; Ohara, Osamu; Nonoyama, Shigeaki; Hara, Toshiro (2016). "Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency". Medicine. 95 (4): e2437. doi:10.1097/MD.0000000000002437. ISSN 0025-7974.

[4] Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)

[5] Chaim O. Jacob, Jiankun Zhu, Don L. Armstrong, Mei Yan, Jie Han, Xin J. Zhou, James A. Thomas, Andreas Reiff, Barry L. Myones, Joshua O. Ojwang, Kenneth M. Kaufman, Marisa Klein-Gitelman, Deborah McCurdy, Linda Wagner-Weiner, Earl Silverman, Julie Ziegler, Jennifer A. Kelly, Joan T. Merrill, John B. Harley, Rosalind Ramsey-Goldman, Luis M. Vila, Sang-Cheol Bae, Timothy J. Vyse, Gary S. Gilkeson, Patrick M. Gaffney, Kathy L. Moser, Carl D. Langefeld, Raphael Zidovetzki & Chandra Mohan (2009). "Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus". Proceedings of the National Academy of Sciences of the United States of America. 106 (15): 6256–6261. doi:10.1073/pnas.0901181106. PMID 19329491. Unknown parameter |month= ignored (help)

[6] Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)

[7] Laura Israel, Ying Wang, Katarzyna Bulek, Erika Della Mina, Zhao Zhang, Vincent Pedergnana, Maya Chrabieh, Nicole A. Lemmens, Vanessa Sancho-Shimizu, Marc Descatoire, Theo Lasseau, Elisabeth Israelsson, Lazaro Lorenzo, Ling Yun, Aziz Belkadi, Andrew Moran, Leonard E. Weisman, Francois Vandenesch, Frederic Batteux, Sandra Weller, Michael Levin, Jethro Herberg, Avinash Abhyankar, Carolina Prando, Yuval Itan, Willem J. B. van Wamel, Capucine Picard, Laurent Abel, Damien Chaussabel, Xiaoxia Li, Bruce Beutler, Peter D. Arkwright, Jean-Laurent Casanova & Anne Puel (2017). "Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity". Cell. 168 (5): 789–800. doi:10.1016/j.cell.2017.01.039. PMID 28235196. Unknown parameter |month= ignored (help)

[8] Paul J. Maglione, Noa Simchoni & Charlotte Cunningham-Rundles (2015). "Toll-like receptor signaling in primary immune deficiencies". Annals of the New York Academy of Sciences. 1356: 1–21. doi:10.1111/nyas.12763. PMID 25930993. Unknown parameter |month= ignored (help)

[9] Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)

[10] Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R. Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, Capucine Picard, Laurent Abel, Lluis Quintana-Murci, Saul N. Faust, Anthony P. Williams, Richard Baretto, Michael Duddridge, Usha Kini, Andrew J. Pollard, Catherine Gaud, Pierre Frange, Daniel Orbach, Jean-Francois Emile, Jean-Louis Stephan, Ricardo Sorensen, Alessandro Plebani, Lennart Hammarstrom, Mary Ellen Conley, Licia Selleri & Jean-Laurent Casanova (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science (New York, N.Y.). 340 (6135): 976–978. doi:10.1126/science.1234864. PMID 23579497. Unknown parameter |month= ignored (help)

[11] Shigeo Iijima (2017). "Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review". BMC infectious diseases. 17 (1): 777. doi:10.1186/s12879-017-2896-5. PMID 29254492. Unknown parameter |month= ignored (help)

[12] Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)

[13] Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachee-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stephane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova & Anne Puel (2016). "Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype". Blood. 127 (25): 3154–3164. doi:10.1182/blood-2015-11-679902. PMID 27114460. Unknown parameter |month= ignored (help)

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@@ Line 1: / Line 1: @@
 __NOTOC__
 {{ID}}
-{{CMG}}; {{AE}} {{ZAS}}, {{Anmol}}
+{{CMG}} {{shyam}}; {{AE}} {{ZAS}}, {{Anmol}}
 ==Overview==
+Defects in intrinsic and innate immunity can result in infection by bacteria, viruses, and fungi.
 ==Classification==
@@ Line 56: / Line 56: @@
 {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |)| H01 | | | | | | |H01=CD16 def: (FCGR3A,AR) }}
 {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | }}
-{{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |`| I01 | | | | | | |I01=MDAS def: (LOF), IFIH1,AR }}
+{{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |`| I01 | | | | | | |I01=MDA5 def: (LOF), IFIH1,AR }}
 {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
 {{familytree/end}}
@@ Line 680: / Line 680: @@
 ==IFNGR1 Deficiency==
-* IFNGR1 (interferon gamma receptor 1) gene located on chromosome 6q23.3 encodes the ligand binding chain (alpha) of the gamma interferon receptor. Human interferon gamma receptor is a heterodimer of IFNGR1 and IFNGR2.<ref>{{Cite journal
+* [[IFNGR|IFNGR1]] ([[interferon gamma|interferon gamma receptor 1]]) [[gene]] located on [[chromosome 6|chromosome 6q23.3]] encodes the ligand binding chain (alpha) of the gamma interferon [[receptor]]. Human interferon gamma [[receptor]] is a heterodimer of IFNGR1 and IFNGR2.<ref>{{Cite journal
   | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
   | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
@@ Line 692: / Line 692: @@
   | pmid = 24309898
 }}</ref>
-* IFNGR1 deficiency is an autosomal recessive disease presenting with severe nontuberculous mycobaterial infections (mendelian susceptibility to mycobacterial infections) and helicobacter pylori infections.<ref>{{Cite journal
+* [[IFNGR|IFNGR1]] deficiency is an [[autosomal recessive]] [[disease]] presenting with severe nontuberculous [[mycobacterium|mycobaterial infections]] (mendelian susceptibility to [[mycobacterium|mycobacterial infections]]) and [[helicobacter pylori|helicobacter pylori infections]].<ref>{{Cite journal
   | author = [[Esther van de Vosse]] & [[Jaap T. van Dissel]]
   | title = IFN-gammaR1 defects: Mutation update and description of the IFNGR1 variation database
@@ Line 715: / Line 715: @@
   | pmid = 29273450
 }}</ref>
-* Treatment of choice includes hematopoietic stem cell gene therapy, as the recombinant interferon gamma therapy and hematopoietic stem cell transplantation were ineffective.<ref>{{Cite journal
+* Treatment of choice includes [[hematopoietic stem cell transplantation|hematopoietic stem cell gene therapy]], as the recombinant [[interferon gamma]] therapy and [[hematopoietic stem cell transplantation]] were ineffective.<ref>{{Cite journal
   | author = [[Miriam Hetzel]], [[Adele Mucci]], [[Patrick Blank]], [[Ariane Hai Ha Nguyen]], [[Jan Schiller]], [[Olga Halle]], [[Mark-Philipp Kuhnel]], [[Sandra Billig]], [[Robert Meineke]], [[Daniel Brand]], [[Vanessa Herder]], [[Wolfgang Baumgartner]], [[Franz-Christoph Bange]], [[Ralph Goethe]], [[Danny Jonigk]], [[Reinhold Forster]], [[Bernhard Gentner]], [[Jean-Laurent Casanova]], [[Jacinta Bustamante]], [[Axel Schambach]], [[Ulrich Kalinke]] & [[Nico Lachmann]]
   | title = Hematopoietic stem cell gene therapy for IFNgammaR1 deficiency protects mice from mycobacterial infections
@@ Line 728: / Line 728: @@
 }}</ref>
-==IL12 & 23 Receptor B1 chain Deficiency==
+==IL12 & IL23 Receptor B1 Chain Deficiency==
-* IL12 b gene also called IL12p40 gene located on chromosome 11 encodes the beta subunit p40 of the interleukin 12 family of cytokines. Members of IL12 family form heterodimers consisting of heavy and light subunits linked by disulfide bonds. The product of this gene p40 is a subunit of IL12 and IL23.<ref>{{Cite journal
+* IL12b [[gene]] located on [[chromosome 5|chromosome 5q23.3]] encodes a subunit of [[interleukin 12]], a [[cytokine]] that acts on T ad [[natural killer cell|NK cells]] and has a wide array of biological activities. This [[cytokine]] is expressed by activated [[macrophages]] that serve as an essential inducer of [[t helper cell|Th1 cells]] development.<ref>{{Cite journal
- | author = [[Feng Yue]], [[Yong Cheng]], [[Alessandra Breschi]], [[Jeff Vierstra]], [[Weisheng Wu]], [[Tyrone Ryba]], [[Richard Sandstrom]], [[Zhihai Ma]], [[Carrie Davis]], [[Benjamin D. Pope]], [[Yin Shen]], [[Dmitri D. Pervouchine]], [[Sarah Djebali]], [[Robert E. Thurman]], [[Rajinder Kaul]], [[Eric Rynes]], [[Anthony Kirilusha]], [[Georgi K. Marinov]], [[Brian A. Williams]], [[Diane Trout]], [[Henry Amrhein]], [[Katherine Fisher-Aylor]], [[Igor Antoshechkin]], [[Gilberto DeSalvo]], [[Lei-Hoon See]], [[Meagan Fastuca]], [[Jorg Drenkow]], [[Chris Zaleski]], [[Alex Dobin]], [[Pablo Prieto]], [[Julien Lagarde]], [[Giovanni Bussotti]], [[Andrea Tanzer]], [[Olgert Denas]], [[Kanwei Li]], [[M. A. Bender]], [[Miaohua Zhang]], [[Rachel Byron]], [[Mark T. Groudine]], [[David McCleary]], [[Long Pham]], [[Zhen Ye]], [[Samantha Kuan]], [[Lee Edsall]], [[Yi-Chieh Wu]], [[Matthew D. Rasmussen]], [[Mukul S. Bansal]], [[Manolis Kellis]], [[Cheryl A. Keller]], [[Christapher S. Morrissey]], [[Tejaswini Mishra]], [[Deepti Jain]], [[Nergiz Dogan]], [[Robert S. Harris]], [[Philip Cayting]], [[Trupti Kawli]], [[Alan P. Boyle]], [[Ghia Euskirchen]], [[Anshul Kundaje]], [[Shin Lin]], [[Yiing Lin]], [[Camden Jansen]], [[Venkat S. Malladi]], [[Melissa S. Cline]], [[Drew T. Erickson]], [[Vanessa M. Kirkup]], [[Katrina Learned]], [[Cricket A. Sloan]], [[Kate R. Rosenbloom]], [[Beatriz Lacerda de Sousa]], [[Kathryn Beal]], [[Miguel Pignatelli]], [[Paul Flicek]], [[Jin Lian]], [[Tamer Kahveci]], [[Dongwon Lee]], [[W. James Kent]], [[Miguel Ramalho Santos]], [[Javier Herrero]], [[Cedric Notredame]], [[Audra Johnson]], [[Shinny Vong]], [[Kristen Lee]], [[Daniel Bates]], [[Fidencio Neri]], [[Morgan Diegel]], [[Theresa Canfield]], [[Peter J. Sabo]], [[Matthew S. Wilken]], [[Thomas A. Reh]], [[Erika Giste]], [[Anthony Shafer]], [[Tanya Kutyavin]], [[Eric Haugen]], [[Douglas Dunn]], [[Alex P. Reynolds]], [[Shane Neph]], [[Richard Humbert]], [[R. Scott Hansen]], [[Marella De Bruijn]], [[Licia Selleri]], [[Alexander Rudensky]], [[Steven Josefowicz]], [[Robert Samstein]], [[Evan E. Eichler]], [[Stuart H. Orkin]], [[Dana Levasseur]], [[Thalia Papayannopoulou]], [[Kai-Hsin Chang]], [[Arthur Skoultchi]], [[Srikanta Gosh]], [[Christine Disteche]], [[Piper Treuting]], [[Yanli Wang]], [[Mitchell J. Weiss]], [[Gerd A. Blobel]], [[Xiaoyi Cao]], [[Sheng Zhong]], [[Ting Wang]], [[Peter J. Good]], [[Rebecca F. Lowdon]], [[Leslie B. Adams]], [[Xiao-Qiao Zhou]], [[Michael J. Pazin]], [[Elise A. Feingold]], [[Barbara Wold]], [[James Taylor]], [[Ali Mortazavi]], [[Sherman M. Weissman]], [[John A. Stamatoyannopoulos]], [[Michael P. Snyder]], [[Roderic Guigo]], [[Thomas R. Gingeras]], [[David M. Gilbert]], [[Ross C. Hardison]], [[Michael A. Beer]] & [[Bing Ren]]
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
-  | title = A comparative encyclopedia of DNA elements in the mouse genome
+  | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
-  | journal = [[Nature]]
+  | journal = [[Molecular & cellular proteomics : MCP]]
-  | volume = 515
+  | volume = 13
-  | issue = 7527
+  | issue = 2
-  | pages = 355–364
+  | pages = 397–406
   | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* Its deficiency can lead to [[mycobacterium|mycobacterial infections]], [[takayasu arteritis]], increased risk of [[endometriosis|ovarian endometriosis]] and increased [[cirrhosis|hepatic cirrhosis]] in [[hepatitis C]].<ref>{{Cite journal
+ | author = [[Pallipamu Prakash Babu]], [[Pasupuleti Santhosh Kumar]], [[Alladi Mohan]], [[Bhattaram Siddhartha Kumar]] & [[Potukuchi Venkata Gurunadha Krishna Sarma]]
+ | title = Novel mutations in the exon 5, intron 2 and 3' UTR regions of IL-12B gene were observed in clinically proven tuberculosis patients of south India
+ | journal = [[Cytokine]]
+ | volume = 99
+ | pages = 50–58
+ | year = 2017
   | month = November
-  | doi = 10.1038/nature13992
+  | doi = 10.1016/j.cyto.2017.07.003
-  | pmid = 25409824
+  | pmid = 28697396
+}}</ref><ref>{{Cite journal
+ | author = [[Toshiki Nakajima]], [[Hajime Yoshifuji]], [[Masakazu Shimizu]], [[Koji Kitagori]], [[Kosaku Murakami]], [[Ran Nakashima]], [[Yoshitaka Imura]], [[Masao Tanaka]], [[Koichiro Ohmura]], [[Fumihiko Matsuda]], [[Chikashi Terao]] & [[Tsuneyo Mimori]]
+ | title = A novel susceptibility locus in the IL12B region is associated with the pathophysiology of Takayasu arteritis through IL-12p40 and IL-12p70 production
+ | journal = [[Arthritis research & therapy]]
+ | volume = 19
+ | issue = 1
+ | pages = 197
+ | year = 2017
+ | month = September
+ | doi = 10.1186/s13075-017-1408-8
+ | pmid = 28874185
+}}</ref><ref>{{Cite journal
+ | author = [[Wei Zhao]], [[Yan Li]], [[Jian Zhao]] & [[Shan Kang]]
+ | title = A functional promoter polymorphism in interleukin 12B gene is associated with an increased risk of ovarian endometriosis
+ | journal = [[Gene]]
+ | volume = 666
+ | pages = 27–31
+ | year = 2018
+ | month = August
+ | doi = 10.1016/j.gene.2018.04.082
+ | pmid = 29738836
 }}</ref>
-*
 ==ISG15 Deficiency==
-*
+* [[ISG15]] ([[interferon]] stimualated [[gene]] 15) [[gene]] located on [[chromosome 1|chromosome 1p36.33]] encodes a [[ubiquitin]] like [[protein]] that is conjugated to intracellular target [[proteins]] upon activation by [[interferon|INF-alpha & INF-beta]]. It has several functions including [[chemotaxis|chemotactic activity]] towards [[neutrophils]], direction of [[ligand]] target [[proteins]] to [[intermediate filaments]], [[cell]] to [[cell]] signalling and [[antiviral]] activity during [[virus|viral infections]].<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[ISG15]] deficiency can lead to mendelian susceptibility to [[mycobacterium|mycobaterial disease]] (MSMD) and [[salmonella|salmonella infections]].<ref>{{Cite journal
+ | author = [[Dusan Bogunovic]], [[Minji Byun]], [[Larissa A. Durfee]], [[Avinash Abhyankar]], [[Ozden Sanal]], [[Davood Mansouri]], [[Sandra Salem]], [[Irena Radovanovic]], [[Audrey V. Grant]], [[Parisa Adimi]], [[Nahal Mansouri]], [[Satoshi Okada]], [[Vanessa L. Bryant]], [[Xiao-Fei Kong]], [[Alexandra Kreins]], [[Marcela Moncada Velez]], [[Bertrand Boisson]], [[Soheila Khalilzadeh]], [[Ugur Ozcelik]], [[Ilad Alavi Darazam]], [[John W. Schoggins]], [[Charles M. Rice]], [[Saleh Al-Muhsen]], [[Marcel Behr]], [[Guillaume Vogt]], [[Anne Puel]], [[Jacinta Bustamante]], [[Philippe Gros]], [[Jon M. Huibregtse]], [[Laurent Abel]], [[Stephanie Boisson-Dupuis]] & [[Jean-Laurent Casanova]]
+ | title = Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency
+ | journal = [[Science (New York, N.Y.)]]
+ | volume = 337
+ | issue = 6102
+ | pages = 1684–1688
+ | year = 2012
+ | month = September
+ | doi = 10.1126/science.1224026
+ | pmid = 22859821
+}}</ref>
 ==EVER1 Deficiency==
-*
+* EVER1 ([[transmembrane]] channel like 6) [[gene]] located on [[chromosome 17|chromosome 17q25.3]] encodes integral [[membrane protein|membrane proteins]] that localize to the [[endoplasmic reticulum]] and are predicted to form [[transmembrane]] channels. It encodes a [[transmembrane]] channel like [[protein]] with 10 [[transmembrane]] domains and 2 [[leucine]] zipper motifs.<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* EVER1 deficiency is associated with [[epidermodysplasia verruciformis|epidermodysplasia verruciformis (EV)]] which is characterized by abnormal susceptibility to [[human papillomavirus|human papillomaviruses]] and multiple [[squamous cell carcinoma|squamous cell carcinomas (SCC)]] of sun exposed areas of [[skin]].<ref>{{Cite journal
+ | author = [[Baki Akgul]], [[Osman Kose]], [[Mukerrem Safali]], [[Karin Purdie]], [[Rino Cerio]], [[Charlotte Proby]] & [[Alan Storey]]
+ | title = A distinct variant of Epidermodysplasia verruciformis in a Turkish family lacking EVER1 and EVER2 mutations
+ | journal = [[Journal of dermatological science]]
+ | volume = 46
+ | issue = 3
+ | pages = 214–216
+ | year = 2007
+ | month = June
+ | doi = 10.1016/j.jdermsci.2007.01.002
+ | pmid = 17306964
+}}</ref>
 ==EVER2 Deficiency==
-*
+* EVER2 ([[transmembrane]] channel like 8) [[gene]] located on [[chromosome 17|chromosome 17q25.3]] encodes integral [[membrane proteins]] that localize to the [[endoplasmic reticulum]] and are predicted to form [[transmembrane]] channels. it encodes a [[transmembrane]] channel like [[protein]] with 8 predicted [[transmembrane]] domains and 3 [[leucine]] zippers motifs.<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* EVER2 deficiency can present with [[epidermodysplasia verruciformis|epidermodysplasia verruciformis (EV)]], [[human papillomavirus|HPV infection]] and head & neck [[squamous cell carcinoma|squamous cell carcinomas]].<ref>{{Cite journal
+ | author = [[E. Imahorn]], [[Z. Yuksel]], [[I. Spoerri]], [[G. Gurel]], [[C. Imhof]], [[Z. N. Saracoglu]], [[A. E. Koku Aksu]], [[P. L. Rady]], [[S. K. Tyring]], [[W. Kempf]], [[P. H. Itin]] & [[B. Burger]]
+ | title = Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease
+ | journal = [[Journal of the European Academy of Dermatology and Venereology : JEADV]]
+ | volume = 31
+ | issue = 10
+ | pages = 1722–1726
+ | year = 2017
+ | month = October
+ | doi = 10.1111/jdv.14431
+ | pmid = 28646613
+}}</ref><ref>{{Cite journal
+ | author = [[Caihua Liang]], [[Karl T. Kelsey]], [[Michael D. McClean]], [[Brock C. Christensen]], [[Carmen J. Marsit]], [[Margaret R. Karagas]], [[Tim Waterboer]], [[Michael Pawlita]] & [[Heather H. Nelson]]
+ | title = A coding variant in TMC8 (EVER2) is associated with high risk HPV infection and head and neck cancer risk
+ | journal = [[PloS one]]
+ | volume = 10
+ | issue = 4
+ | pages = e0123716
+ | year = 2015
+ | month =
+ | doi = 10.1371/journal.pone.0123716
+ | pmid = 25853559
+}}</ref>
 ==WHIM Syndrome==
-*
+* [[WHIM syndrome|WHIM]] ([[warts]], [[hypogammaglobulinemia]], [[infections]], [[myelokathexis]]) [[syndrome]] is a [[genetic]] [[disease]] characterized by [[neutropenia]], [[lymphopenia]], susceptibility to [[infections]] and [[myelokathexis]] is caused by [[mutation]] in the [[CXCR4]] [[gene]].<ref>{{Cite journal
-*
+ | author = [[Raffaele Badolato]] & [[Jean Donadieu]]
+ | title = How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome
+ | journal = [[Blood]]
+ | volume = 130
+ | issue = 23
+ | pages = 2491–2498
+ | year = 2017
+ | month = December
+ | doi = 10.1182/blood-2017-02-708552
+ | pmid = 29066537
+}}</ref>
+* [[CXCR4]] (c-x-c motif chemokine receptor4) [[gene]] located on [[chromosome 2|chromosome 2q22.1]] encodes a CXC [[chemokine]] [[receptor]] specific for stromal [[cell]] derived factor1. The [[protein]] has 7 [[transmembrane]] regions & is located on [[cell]] surface. It acts with [[CD4]] [[protein]] to support [[HIV]] entry into the [[cell|cells]] & is also highly expressed in [[breast]] [[cancer]] [[cell|cells]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* Treatment options include; [[granulocyte colony stimulating factor|granulocyte-colony stimulating factor (G-CSF)]], granulocyte-monocyte-colony stimulating factor (GM-CSF), [[plerixafor|plerixafor (AMD3100)]] and [[stem cell transplantation|allogenic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Lauren E. Heusinkveld]], [[Erin Yim]], [[Alexander Yang]], [[Ari B. Azani]], [[Qian Liu]], [[Ji-Liang Gao]], [[David H. McDermott]] & [[Philip M. Murphy]]
+ | title = Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency
+ | journal = [[Expert opinion on orphan drugs]]
+ | volume = 5
+ | issue = 10
+ | pages = 813–825
+ | year = 2017
+ | month =
+ | doi = 10.1080/21678707.2017.1375403
+ | pmid = 29057173
+}}</ref>
 ==STAT1 Deficiency==
-*
+* [[STAT1]] (signal transducer & activator of [[Transcription (genetics)|transcription]] 1) gene located on [[Chromosome 2 (human)|chromosome 2q32.2]] encodes a [[protein]] member of the [[STAT]] [[protein]] family. When activated, [[STAT]] family members translocate to the [[cell nucleus]] where they act as [[Transcription (genetics)|transcription activators]]. It is activated by various [[Ligand (biochemistry)|ligands]] including [[interferon-alpha]], [[interferon-gamma]], EGF, [[Platelet-derived growth factor|PDGF]] and [[Interleukin-6 receptor|IL6]] and is thought to be important for [[Cell (biology)|cell]] viability in response to different [[Cell (biology)|cell]] stimuli and [[Pathogen|pathogens]].<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[STAT1]] deficiency (loss of function [[mutation]]) can present with predisposition to intracellular ([[mycobacterium|mycobacterial]]) and [[virus|viral infections]].<ref name="LeggerWulffraat2016">{{cite journal|last1=Legger|first1=G. Elizabeth|last2=Wulffraat|first2=Nico M.|last3=van Montfrans|first3=Joris M.|title=Immunodeficiencies and the Rheumatic Diseases|year=2016|pages=597–608.e5|doi=10.1016/B978-0-323-24145-8.00046-6}}</ref>
 ==STAT2 Deficiency==
-*
+* [[STAT2]] (signal transducer & activator of [[transcription]] 2) [[gene]] located on [[chromosome 12|chromosome 12q13.3]] encodes for a [[protein]] member of [[STAT]] [[protein]] family, when activated translocates to the [[cell]] [[necleus]] and act as [[transcription]] activators.In response to [[interferon]], this [[protein]] forms a complex with [[STAT1]] and [[interferon|IFN]] regulatory factor family [[protein]] p48 (ISGF3G), in which this [[protein]] acts as a transactivator.<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[STAT2]] deficiency can present with severe [[virus|viral infections]], including [[measles]] in children.<ref>{{Cite journal
+ | author = [[Sophie Hambleton]], [[Stephen Goodbourn]], [[Dan F. Young]], [[Paul Dickinson]], [[Siti M. B. Mohamad]], [[Manoj Valappil]], [[Naomi McGovern]], [[Andrew J. Cant]], [[Scott J. Hackett]], [[Peter Ghazal]], [[Neil V. Morgan]] & [[Richard E. Randall]]
+ | title = STAT2 deficiency and susceptibility to viral illness in humans
+ | journal = [[Proceedings of the National Academy of Sciences of the United States of America]]
+ | volume = 110
+ | issue = 8
+ | pages = 3053–3058
+ | year = 2013
+ | month = February
+ | doi = 10.1073/pnas.1220098110
+ | pmid = 23391734
+}}</ref>
 ==IRF7 Deficiency==
-*
+* [[IRF7]] ([[interferon]] regulatory factor 7) [[gene]] located on [[chromosome 11|chromosome 11p15.5]] encodes [[IRF7]]. It play a role in the transcriptional activation of [[virus]] inducible [[cell|cellular]] [[gene|genes]], including [[interferon beta]] chain [[genes]]. Its expression is largely restricted to [[lymphoid tissue]].<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[IRF7]] deficiency can present with severe [[virus|viral infections]] including life threatening [[influenza]].<ref>{{Cite journal
+ | author = [[Michael J. Ciancanelli]], [[Sarah X. L. Huang]], [[Priya Luthra]], [[Hannah Garner]], [[Yuval Itan]], [[Stefano Volpi]], [[Fabien G. Lafaille]], [[Celine Trouillet]], [[Mirco Schmolke]], [[Randy A. Albrecht]], [[Elisabeth Israelsson]], [[Hye Kyung Lim]], [[Melina Casadio]], [[Tamar Hermesh]], [[Lazaro Lorenzo]], [[Lawrence W. Leung]], [[Vincent Pedergnana]], [[Bertrand Boisson]], [[Satoshi Okada]], [[Capucine Picard]], [[Benedicte Ringuier]], [[Francoise Troussier]], [[Damien Chaussabel]], [[Laurent Abel]], [[Isabelle Pellier]], [[Luigi D. Notarangelo]], [[Adolfo Garcia-Sastre]], [[Christopher F. Basler]], [[Frederic Geissmann]], [[Shen-Ying Zhang]], [[Hans-Willem Snoeck]] & [[Jean-Laurent Casanova]]
+ | title = Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
+ | journal = [[Science (New York, N.Y.)]]
+ | volume = 348
+ | issue = 6233
+ | pages = 448–453
+ | year = 2015
+ | month = April
+ | doi = 10.1126/science.aaa1578
+ | pmid = 25814066
+}}</ref>
 ==CD16 Deficiency==
-*
+* [[CD16]] also called [[FCGR3A]] (Fc Fragement of [[IgG]] [[Receptor]] IIIa) [[gene]] located on [[chromosome 1|chromosome 1q23.3]] encodes a [[receptor]] for Fc portion of [[IgG]], which is involved in the removal of [[antigen]]-[[antibody]] complexes from the [[circulation]] as well as other [[antibody]] dependant responses.<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[CD16]] deficiency presents with severe [[virus|viral infections]] including life threatening [[herpes virus|herpes virus infections]].<ref>{{Cite journal
+ | author = [[Jennifer T. Grier]], [[Lisa R. Forbes]], [[Linda Monaco-Shawver]], [[Jennifer Oshinsky]], [[T. Prescott Atkinson]], [[Curtis Moody]], [[Rahul Pandey]], [[Kerry S. Campbell]] & [[Jordan S. Orange]]
+ | title = Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity
+ | journal = [[The Journal of clinical investigation]]
+ | volume = 122
+ | issue = 10
+ | pages = 3769–3780
+ | year = 2012
+ | month = October
+ | doi = 10.1172/JCI64837
+ | pmid = 23006327
+}}</ref>
-==MDAS Deficiency==
+==MDA5 Deficiency==
-*
+* [[MDA5]] ([[melanoma]] differentiation associated [[gene]] 5) also called as [[IFIH1]] ([[interferon]] induced [[helicase]] C [[domain]] containing [[prtein]] 1) [[gene]] located on [[chromosome 2|chromosome 2q24.2]] encodes a DEAD box [[protein|proteins]] and is implicated in a number of [[cell|cellular]] processes involving alteration of [[RNA]] secondary structure such as [[translation]] initiation, [[nucleus|nuclear]] & [[mitochondria|mitochondrial]] splicing and [[ribosome]] & [[spliceosome]] assembly.<ref>{{Cite journal
-*
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[MDA5]] deficiency can lead to recurrent and severe [[virus|viral infections]].<ref>{{Cite journal
+ | author = [[Maha Zaki]], [[Michaela Thoenes]], [[Amit Kawalia]], [[Peter Nurnberg]], [[Rolf Kaiser]], [[Raoul Heller]] & [[Hanno J. Bolz]]
+ | title = Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
+ | journal = [[Frontiers in genetics]]
+ | volume = 8
+ | pages = 130
+ | year = 2017
+ | month =
+ | doi = 10.3389/fgene.2017.00130
+ | pmid = 29018476
+}}</ref>
 ==Herpes Simplex Encephalitis==
-*
+* [[Herpes simplex encephalitis]] is an [[infection]] of the [[brain parenchyma]] cause by a double stranded [[DNA virus]] called [[herpes simplex virus|herpes simplex virus 1(HSV1)]], which gains access to human body through [[mucous membranes]] or damaged [[skin]].<ref>{{Cite journal
-*
+ | author = [[Michael J. Bradshaw]] & [[Arun Venkatesan]]
+ | title = Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management
+ | journal = [[Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics]]
+ | volume = 13
+ | issue = 3
+ | pages = 493–508
+ | year = 2016
+ | month = July
+ | doi = 10.1007/s13311-016-0433-7
+ | pmid = 27106239
+}}</ref>
+* It can present as [[fever]], new [[seizures]], [[altered mental status]], focal neurological signs, [[CSF]] [[pleocytosis]] and contrast enhancing lesions on [[MRI]].<ref>{{Cite journal
+ | author = [[Michael J. Bradshaw]] & [[Arun Venkatesan]]
+ | title = Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management
+ | journal = [[Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics]]
+ | volume = 13
+ | issue = 3
+ | pages = 493–508
+ | year = 2016
+ | month = July
+ | doi = 10.1007/s13311-016-0433-7
+ | pmid = 27106239
+}}</ref>
+* Treatment includes IV [[acyclovir]] for 14 to 21 days.<ref>{{Cite journal
+ | author = [[Michael J. Bradshaw]] & [[Arun Venkatesan]]
+ | title = Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management
+ | journal = [[Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics]]
+ | volume = 13
+ | issue = 3
+ | pages = 493–508
+ | year = 2016
+ | month = July
+ | doi = 10.1007/s13311-016-0433-7
+ | pmid = 27106239
+}}</ref>
+* For further information of herpes simplex encephalitis click [[Herpes simplex encephalitis|here]].
 ==References==
 {{Reflist|2}}

Defects in intrinsic and innate immunity: Difference between revisions

Latest revision as of 23:07, 28 January 2019

Overview

Classification

Bacterial and Parasitic infections

MSMD and Viral Infections

IRAK4 Deficiency

IRAK1 Deficiency

TIRAP Deficiency

RPSA Deficiency

STAT1 GOF

IL17F Deficiency

IL17RA Deficiency

IL17RC Deficiency

ACT1 Deficiency

CARD9 Deficiency

Trypanosomiasis (APOL1)

Osteopetrosis

Hidradenitis Suppurativa

NBAS Deficiency

RANBP2 Deficiency

IFNGR1 Deficiency

IL12 & IL23 Receptor B1 Chain Deficiency

ISG15 Deficiency

EVER1 Deficiency

EVER2 Deficiency

WHIM Syndrome

STAT1 Deficiency

STAT2 Deficiency

IRF7 Deficiency

CD16 Deficiency

MDA5 Deficiency

Herpes Simplex Encephalitis

References

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