Defects in intrinsic and innate immunity

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Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

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

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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  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)
  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)
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  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)
  14. 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)
  15. 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)
  16. 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)
  17. 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)
  18. 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)
  19. 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)
  20. 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)
  21. 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)
  22. 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)
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