Auto-inflammatory disorders: Difference between revisions
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== | ==Familial Mediterranean Fever== | ||
*[[Autosomal recessive]] (AR) transmission. | *[[Autosomal recessive]] (AR) transmission. | ||
*It is caused by mutation in the pyrin gene ([[MEFV]]) on [[chromosome 16]]. | *It is caused by mutation in the pyrin gene ([[MEFV]]) on [[chromosome 16]]. | ||
*Patients present with recurrent fever and attacks of [[peritonitis]]. | *Patients present with recurrent fever and attacks of [[peritonitis]]. | ||
*Attacks are self-limiting, and require analgesia and [[non-steroidal anti-inflammatory drugs]] (such as diclofenac)<ref>{{Cite journal | *Attacks are self-limiting, and require analgesia and [[non-steroidal anti-inflammatory drugs]] (such as [[diclofenac]])<ref>{{Cite journal | ||
| author = [[A. Livneh]] & [[P. Langevitz]] | | author = [[A. Livneh]] & [[P. Langevitz]] | ||
| title = Diagnostic and treatment concerns in familial Mediterranean fever | | title = Diagnostic and treatment concerns in familial Mediterranean fever | ||
| Line 60: | Line 60: | ||
| pmid = 4636899 | | pmid = 4636899 | ||
}}</ref> | }}</ref> | ||
For more information about [[familial mediterranean fever]], [[Familial mediterranean fever|click here]]. | |||
== | ==Mevalonate kinase deficiency (Hyper IgD syndrome)== | ||
*[[Autosomal recessive]] (AR) transmission. | *[[Autosomal recessive]] (AR) transmission. | ||
*It is caused by homozygous or compound heterozygous mutation in the gene encoding [[mevalonate kinase]] (MVK) on [[chromosome 12]]. | *It is caused by homozygous or compound heterozygous mutation in the gene encoding [[mevalonate kinase]] (MVK) on [[chromosome 12]]. | ||
*Patients present with cervical [[adenopathy]], [[headache]], [[Arthralgias|arthralgia]] and [[diarrhea]]. | *Patients present with cervical [[adenopathy]], [[headache]], [[Arthralgias|arthralgia]] and [[diarrhea]]. | ||
*Laboratory findings include [[leukocytosis]] with high IgD levels. | *Laboratory findings include [[leukocytosis]] with high [[IgD]] levels. | ||
For more information about [[Mevalonate kinase deficiency]], [[Mevalonate kinase deficiency|click here]]. | |||
==TNF receptor-associated periodic syndrome== | ==TNF receptor-associated periodic syndrome== | ||
| Line 82: | Line 83: | ||
| pmid = 9585614 | | pmid = 9585614 | ||
}}</ref> | }}</ref> | ||
*Patients present with recurrent attacks of [[fever]], [[abdominal pain]], tender skin lesions, and [[myalgia]].<ref>{{Cite journal | *Patients present with recurrent attacks of [[fever]], [[abdominal pain]], tender [[skin lesions]], and [[myalgia]].<ref>{{Cite journal | ||
| author = [[L. M. Williamson]], [[D. Hull]], [[R. Mehta]], [[W. G. Reeves]], [[B. H. Robinson]] & [[P. J. Toghill]] | | author = [[L. M. Williamson]], [[D. Hull]], [[R. Mehta]], [[W. G. Reeves]], [[B. H. Robinson]] & [[P. J. Toghill]] | ||
| title = Familial Hibernian fever | | title = Familial Hibernian fever | ||
| Line 106: | Line 107: | ||
}}</ref> | }}</ref> | ||
==Familial Cold Auto- | ==Familial Cold Auto-Inflammatory Syndrome== | ||
*[[Autosomal dominant]] (AD) transmission. | *[[Autosomal dominant]] (AD) transmission. | ||
*It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]]. | *It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]]. | ||
*Patients present with [[maculopapular rash]], [[fever]], [[chills]] and [[arthralgias]] after exposure to cold temperature. | *Patients present with [[maculopapular rash]], [[fever]], [[chills]] and [[arthralgias]] after exposure to cold temperature. | ||
For more information about [[Familial cold autoinflammatory syndrome|familial cold auto-inflammatory syndrome]], [[Familial cold autoinflammatory syndrome|click here]]. | |||
== | ==Muckle Wells Syndrome== | ||
*[[Autosomal dominant]] (AD) transmission. | *[[Autosomal dominant]] (AD) transmission. | ||
*It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]]. | *It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]]. | ||
| Line 126: | Line 127: | ||
| pmid = 11992256 | | pmid = 11992256 | ||
}}</ref> | }}</ref> | ||
For more information about [[Muckle-Wells Syndrome|Muckle Wells syndrome]], [[Muckle-Wells Syndrome|click here]]. | |||
== | ==Neonatal onset multisystem inflammatory disease== | ||
*[[Autosomal dominant]] (AD) transmission. | *[[Autosomal dominant]] (AD) transmission. | ||
*It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]]. | *It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]]. | ||
| Line 153: | Line 155: | ||
| pmid = 16532456 | | pmid = 16532456 | ||
}}</ref> | }}</ref> | ||
For more information about [[Neonatal onset multisystem inflammatory disease]] , [[Neonatal onset multisystem inflammatory disease|click here]]. | |||
==PLAID (PLCg2 associated antibody deficiency and immune dysregulation) | |||
==PLAID (PLCg2 associated antibody deficiency and immune dysregulation)== | |||
*[[Autosomal dominant]] (AD) transmission. | *[[Autosomal dominant]] (AD) transmission. | ||
*It is caused by heterozygous mutation in the [[PLCG2]] gene on [[chromosome 16]]. | *It is caused by heterozygous mutation in the [[PLCG2]] gene on [[chromosome 16]]. | ||
| Line 267: | Line 270: | ||
==Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)== | ==Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)== | ||
*Majeed syndrome (MJDS) is caused by homozygous mutation in the LPIN2 gene on [[chromosome 18]]. | *Majeed syndrome (MJDS) is caused by homozygous mutation in the LPIN2 gene on [[chromosome 18]]. | ||
*Patients present with chronic, recurrent multifocal osteomyelitis (CRMO) and transfusion-dependant anemia | *Patients present with chronic, recurrent multifocal osteomyelitis (CRMO) and transfusion-dependant anemia.<ref>{{Cite journal | ||
| author = [[H. A. Majeed]], [[M. Kalaawi]], [[D. Mohanty]], [[A. S. Teebi]], [[M. F. Tunjekar]], [[F. al-Gharbawy]], [[S. A. Majeed]] & [[A. H. al-Gazzar]] | | author = [[H. A. Majeed]], [[M. Kalaawi]], [[D. Mohanty]], [[A. S. Teebi]], [[M. F. Tunjekar]], [[F. al-Gharbawy]], [[S. A. Majeed]] & [[A. H. al-Gazzar]] | ||
| title = Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings | | title = Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings | ||
| Line 295: | Line 298: | ||
}}</ref> | }}</ref> | ||
== | ==Cherubism== | ||
*[[Autosomal dominant]] (AD) tranmission. | *[[Autosomal dominant]] (AD) tranmission. | ||
*It is caused by heterozygous mutation in the [[SH3BP2]] gene on [[chromosome 4]]. | *It is caused by heterozygous mutation in the [[SH3BP2]] gene on [[chromosome 4]]. | ||
| Line 309: | Line 312: | ||
| pmid = 285398 | | pmid = 285398 | ||
}}</ref> | }}</ref> | ||
For more information about [[cherubism]], [[Cherubism|click here]]. | |||
== | |||
==Blau syndrome== | |||
*[[Autosomal dominant]] (AD) transmission. | *[[Autosomal dominant]] (AD) transmission. | ||
*It is caused by heterozygous mutation in the [[NOD2]]/[[CARD15]] gene on [[chromosome 16]]. | *It is caused by heterozygous mutation in the [[NOD2]]/[[CARD15]] gene on [[chromosome 16]]. | ||
| Line 324: | Line 328: | ||
| pmid = 4056967 | | pmid = 4056967 | ||
}}</ref> | }}</ref> | ||
For more information about [[Blau syndrome]], [[Blau syndrome|click here]]. | |||
==CAMPS== | |||
==CAMPS (CARD14 mediated psoriasis)== | |||
*[[Autosomal dominant]] (AD) transmission. | *[[Autosomal dominant]] (AD) transmission. | ||
*It is caused by heterozygous mutation in the [[CARD14]] gene on [[chromosome 17]]. | *It is caused by heterozygous mutation in the [[CARD14]] gene on [[chromosome 17]]. | ||
| Line 375: | Line 380: | ||
==SLC29A3 mutation== | ==SLC29A3 mutation== | ||
*[[Autosomal recessive]] (AR) transmission. | *[[Autosomal recessive]] (AR) transmission. | ||
*It is caused by homozygous or compound heterozygous mutation in the SLC29A3 gene on [[chromosome 10]]. | *It is caused by homozygous or compound heterozygous mutation in the SLC29A3 gene (Solute carrier family 29 (nucleoside transporter), member 3) on [[chromosome 10]]. | ||
*Patients present with [[hyperpigmentation]] [[hypertrichosis]], and histiocytosis lymphadenopathy. | *Patients present with [[hyperpigmentation]] [[hypertrichosis]], and histiocytosis lymphadenopathy. | ||
==Otulipenia | ==Otulipenia== | ||
*[[Autosomal recessive]] (AR) transmission. | *[[Autosomal recessive]] (AR) transmission. | ||
*It is caused by homozygous mutation in the OTULIN gene on [[chromosome 5]]. | *It is caused by homozygous mutation in the OTULIN gene on [[chromosome 5]]. | ||
| Line 394: | Line 399: | ||
}}</ref> | }}</ref> | ||
==AP1S3 deficiency== | ==AP1S3 deficiency== | ||
* Also known as Adaptor-related protein complex 1, sigma-3 subunit deficiency. | |||
*[[Autosomal dominant]] (AD) transmission. | *[[Autosomal dominant]] (AD) transmission. | ||
*It is caused by heterozygous mutation in the AP1S3 gene on [[chromosome 2]]. | *It is caused by heterozygous mutation in the AP1S3 gene on [[chromosome 2]]. | ||
| Line 410: | Line 417: | ||
}}</ref> | }}</ref> | ||
== | ==Aicardi-Goutieres syndrome== | ||
*Aicardi-Goutieres syndrome can have different inheritance patterns: | *Aicardi-Goutieres syndrome can have different inheritance patterns: | ||
**Mutations in the ADAR, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have an [[autosomal recessive]] (AR) pattern. Mutations in the IFIH1 gene and certain severe mutations in the TREX1 or ADAR have an [[autosomal dominant]] (AD) pattern. | **Mutations in the ADAR, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have an [[autosomal recessive]] (AR) pattern. Mutations in the IFIH1 gene and certain severe mutations in the TREX1 or ADAR have an [[autosomal dominant]] (AD) pattern. | ||
| Line 425: | Line 432: | ||
| pmid = 6712192 | | pmid = 6712192 | ||
}}</ref> | }}</ref> | ||
For more information about [[Aicardi-Goutieres syndrome]], [[Aicardi Goutieres syndrome|click here.]] | |||
==Spondyloenchondro-dysplasia with immune dysregulation== | ==Spondyloenchondro-dysplasia with immune dysregulation== | ||
*[[Autosomal recessive]] (AR) transmission. | *[[Autosomal recessive]] (AR) transmission. | ||
| Line 457: | Line 465: | ||
| pmid = 25029335 | | pmid = 25029335 | ||
}}</ref> | }}</ref> | ||
== | ==Adenosine deaminase 2 deficiency== | ||
*[[Autosomal recessive]] (AR) transmission. | *[[Autosomal recessive]] (AR) transmission. | ||
*It is caused by homozygous or compound heterozygous mutation in the [[CECR1]] gene on [[chromosome 22]]. | *It is caused by homozygous or compound heterozygous mutation in the [[CECR1]] gene on [[chromosome 22]]. | ||
| Line 490: | Line 498: | ||
==USP18 deficiency== | ==USP18 deficiency== | ||
* Also known as uniquitin-specific protease 18. | |||
*[[Autosomal recessive]] (AR) transmission. | *[[Autosomal recessive]] (AR) transmission. | ||
*It is caused by homozygous or compound heterozygous mutation in the [[USP18]] gene on [[chromosome 22]]. | *It is caused by homozygous or compound heterozygous mutation in the [[USP18]] gene on [[chromosome 22]]. | ||
Revision as of 14:35, 1 November 2018
|
Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
Auto-inflammatory disorders are characterized by spontaneous inflammation, due to the over activation of innate immunity, which occur without any predisposing infections or autoimmunity disorders. These disorders can be broadly classified into type types; hereditary and acquired. Auto-inflammatory disorders which are related to primary immunodeficiency diseases belong to the hereditary type. Although immunodeficiency and auto-inflammation are separate entities, situations can occur when both inflammation and infections coexist. Hence, it is important to rule out infections when diagnosing auto-inflammatory disorders in immunodeficiency.
Classification
| Auto-inflammatory disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Recurrent inflammation | Systemic inflammation with urticaria rash | Others | Sterile inflammation (skin/bone/joints) | Type 1 Interferonopathies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Mediterranean Fever | Familial Cold Autoinflammatory Syndrome (CAPS) | CANDLE syndrome | Predominant on the bone/joints | Predominant on the skin | Aicardi-Goutieres syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mevalonate kinase deficiency | Muckle Wells syndrome | COPA defect | Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia | Blau syndrome | Spondyloenchondro-dysplasia with immune dysregulation | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TNF receptor-associated periodic syndrome; TRAPS | Neonatal onset multisystem inflammatory disease (CINCA syndrome) | NLRC4-MAS(Macrophage activating syndrome) | Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome) | CAMPS | STING-associated vasculopathy, infantile onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PLAID (PLCg2 associated antibody deficiency and immune dysregulation), or APLAID | DIRA (Deficiency of the interleukin 1 receptor antagonist) | DITRA | ADA2 deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NLRP1 deficiency | Cherubism | ADAM17 deficiency | XL reticulate pigmentary disorder | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| A20 haploinsufficiency | SLC29A3 mutation | USP18 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Otulipenia/ORAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| AP153 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial Mediterranean Fever
- Autosomal recessive (AR) transmission.
- It is caused by mutation in the pyrin gene (MEFV) on chromosome 16.
- Patients present with recurrent fever and attacks of peritonitis.
- Attacks are self-limiting, and require analgesia and non-steroidal anti-inflammatory drugs (such as diclofenac)[1]
- Colchicine has also proved useful in reducing painful attacks.[2]
For more information about familial mediterranean fever, click here.
Mevalonate kinase deficiency (Hyper IgD syndrome)
- Autosomal recessive (AR) transmission.
- It is caused by homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12.
- Patients present with cervical adenopathy, headache, arthralgia and diarrhea.
- Laboratory findings include leukocytosis with high IgD levels.
For more information about Mevalonate kinase deficiency, click here.
TNF receptor-associated periodic syndrome
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the tumor necrosis factor receptor-1 gene (TNFRSF1A) on chromosome 12.[3]
- Patients present with recurrent attacks of fever, abdominal pain, tender skin lesions, and myalgia.[4]
- Etanercept has proven successful as treatment in a case of a young Danish child.[5]
Familial Cold Auto-Inflammatory Syndrome
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
- Patients present with maculopapular rash, fever, chills and arthralgias after exposure to cold temperature.
For more information about familial cold auto-inflammatory syndrome, click here.
Muckle Wells Syndrome
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
- Patients present with skin rashes, arthralgias, and fever along with sensorineural deafness and renal amyloidosis.[6]
For more information about Muckle Wells syndrome, click here.
Neonatal onset multisystem inflammatory disease
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
- Patients present with skin rashes, severe arthritis and chronic meningitis.[7]
- Treatment with the IL1R antagonist Anakinra has shown marked improvement in a number of patients.[8]
For more information about Neonatal onset multisystem inflammatory disease , click here.
PLAID (PLCg2 associated antibody deficiency and immune dysregulation)
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the PLCG2 gene on chromosome 16.
- Patients present with recurrent blistering skin lesions, arthralgia, eye inflammation, enterocolitis, cellulitis, and recurrent sinopulmonary infections.[9]
A20 halpoinsufficiency
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the TNFAIP3 gene on chromosome 6.
- Patients present with mucosal ulcers, particularly in the oral and genital areas, in addition to uveitis and arthritis.[10]
Candle syndrome
- Autosomal recessive (AR) transmission.
- It is caused by homozygous mutation in the PSMB8 gene on chromosome 6.
- Patients present with erythematous plaques on the face and extremities, recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly and basal ganglia calcifications.[11]
NLRC4-MAS (Macrophage activating syndrome)
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the NLRC4 gene on chromosome 2.
- Patients present with severe enterocolitis and episodes of severe auto-inflammation.[12]
Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the PSTPIP1 gene on chromosome 15.
- Patients present with pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne.[13]
Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
- Majeed syndrome (MJDS) is caused by homozygous mutation in the LPIN2 gene on chromosome 18.
- Patients present with chronic, recurrent multifocal osteomyelitis (CRMO) and transfusion-dependant anemia.[14]
DIRA (Deficiency of the interleukin 1 receptor antagonist)
- Autosomal recessive (AR) transmission.
- It is caused by homozygous mutation in the IL1RN gene on chromosome 2.
- Patients present with sterile multifocal osteomyelitis, periostitis, and pustulosis.[15]
Cherubism
- Autosomal dominant (AD) tranmission.
- It is caused by heterozygous mutation in the SH3BP2 gene on chromosome 4.
- Patients present with bone degeneration in the mandible and maxilla and often in the anterior ends of the ribs.[16]
For more information about cherubism, click here.
Blau syndrome
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the NOD2/CARD15 gene on chromosome 16.
- Patients present with granulomatous arthritis, iritis, skin rash and flexion contractures of the fingers and toes.[17]
For more information about Blau syndrome, click here.
CAMPS (CARD14 mediated psoriasis)
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the CARD14 gene on chromosome 17.
- Patients present with psoriasis.[18]
DITRA (Deficiency of IL-36 receptor anatagonist)
- Autosomal recessive (AR) transmission.
- It is caused by homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2.
- Patients present with episodes of high-grade fever, generalized rash, and disseminated pustules.[19]
ADAM17 deficiency
- Autosomal recessive (AR) transmission.
- It is caused by homozygous mutation in the ADAM17 gene on chromosome 2.
- Patients may develop neonatal skin lesions like perioral and anal erythema, and a generalized pustular rash that may develop into psoriasiform erythroderma. Skin infections with Staph aureus causing otitis externa and recurrent blepharitis might also occur. Patients may also present with early-onset malabsorptive diarrhea and broken, wiry hair.[20]
SLC29A3 mutation
- Autosomal recessive (AR) transmission.
- It is caused by homozygous or compound heterozygous mutation in the SLC29A3 gene (Solute carrier family 29 (nucleoside transporter), member 3) on chromosome 10.
- Patients present with hyperpigmentation hypertrichosis, and histiocytosis lymphadenopathy.
Otulipenia
- Autosomal recessive (AR) transmission.
- It is caused by homozygous mutation in the OTULIN gene on chromosome 5.
- Patients present with panniculitis, recurrent fevers, diarrhea, failure to thrive, and painful swollen joints. Neutrophilia and lipodystrophy are also sometimes present.[21]
AP1S3 deficiency
- Also known as Adaptor-related protein complex 1, sigma-3 subunit deficiency.
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the AP1S3 gene on chromosome 2.
- Patients present with pustular psoriasis.[22]
Aicardi-Goutieres syndrome
- Aicardi-Goutieres syndrome can have different inheritance patterns:
- Mutations in the ADAR, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have an autosomal recessive (AR) pattern. Mutations in the IFIH1 gene and certain severe mutations in the TREX1 or ADAR have an autosomal dominant (AD) pattern.
- Patients present with encephalopathy, cerebral atrophy, thrombocytopenia, elevated hepatic enzymes, and chronic cerebrospinal fluid lymphocytosis.[23]
For more information about Aicardi-Goutieres syndrome, click here.
Spondyloenchondro-dysplasia with immune dysregulation
- Autosomal recessive (AR) transmission.
- It is caused by homozygous or compound heterozygous mutation in the ACP5 gene on chromosome 19.
- Patients present with short stature, arthralgia/arthritis, lupus nephritis, hypocomplementemia, and positive autoantibodies, including antinuclear and anti-dsDNA antibodies.[24]Hemolytic anemia, thrombocytopenia and skeletal dysplasias are also some other characteristic features of this disease.
STING-associated vasculopathy-infantile onset
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the STING gene (TMEM173) on chromosome 5.
- It is an auto-inflammatory vasculopathy which can cause severe skin lesions resulting in ulceration and necrosis. Some patients also have interstitial lung disease.[25]
Adenosine deaminase 2 deficiency
- Autosomal recessive (AR) transmission.
- It is caused by homozygous or compound heterozygous mutation in the CECR1 gene on chromosome 22.
- Patients present with recurrent ischemic stroke leading to neurologic dysfunction, recurrent fever, myalgias, and livedo reticularis. Some patients also develop hypertension, aneurysms, or ischemic necrosis of the digits.[26]
XL reticulate pigmentary disorder
- X-linked recessive (XLR) transmission.
- It is caused by hemizygous or heterozygous mutation in the POLA1 gene on chromosome Xp22.
- Patients may develop recurrent pneumonias, bronchiectasis, chronic diarrhea, diffuse skin hyperpigmentation with a distinctive reticulate pattern, corneal inflammation, enterocolitis, and recurrent urethral strictures. Males also have a characteristic facies (frontally upswept hair and flared eyebrows).[27]
USP18 deficiency
- Also known as uniquitin-specific protease 18.
- Autosomal recessive (AR) transmission.
- It is caused by homozygous or compound heterozygous mutation in the USP18 gene on chromosome 22.
- Patients may develop intracranial hemorrhage, brain malformations, liver dysfunction, thrombocytopenia, respiratory insufficiency and seizures.[28]
References
- ↑ A. Livneh & P. Langevitz (2000). "Diagnostic and treatment concerns in familial Mediterranean fever". Bailliere's best practice & research. Clinical rheumatology. 14 (3): 477–498. doi:10.1053/berh.2000.0089. PMID 10985982. Unknown parameter
|month=ignored (help) - ↑ S. E. Goldfinger (1972). "Colchicine for familial Mediterranean fever". The New England journal of medicine. 287 (25): 1302. doi:10.1056/NEJM197212212872514. PMID 4636899. Unknown parameter
|month=ignored (help) - ↑ M. F. McDermott, B. W. Ogunkolade, E. M. McDermott, L. C. Jones, Y. Wan, K. A. Quane, J. McCarthy, M. Phelan, M. G. Molloy, R. J. Powell, C. I. Amos & G. A. Hitman (1998). "Linkage of familial Hibernian fever to chromosome 12p13". American journal of human genetics. 62 (6): 1446–1451. doi:10.1086/301886. PMID 9585614. Unknown parameter
|month=ignored (help) - ↑ L. M. Williamson, D. Hull, R. Mehta, W. G. Reeves, B. H. Robinson & P. J. Toghill (1982). "Familial Hibernian fever". The Quarterly journal of medicine. 51 (204): 469–480. PMID 7156325.
- ↑ Heike Weyhreter, Marianne Schwartz, Tim D. Kristensen, Niels H. Valerius & Anders Paerregaard (2003). "A new mutation causing autosomal dominant periodic fever syndrome in a Danish family". The Journal of pediatrics. 142 (2): 191–193. doi:10.1067/mpd.2003.15. PMID 12584543. Unknown parameter
|month=ignored (help) - ↑ Catherine Dode, Nathalie Le Du, Laurence Cuisset, Frank Letourneur, Jean-Marie Berthelot, Gerard Vaudour, Alain Meyrier, Richard A. Watts, David G. I. Scott, Anne Nicholls, Brigitte Granel, Camille Frances, Francois Garcier, Patrick Edery, Serge Boulinguez, Jean-Paul Domergues, Marc Delpech & Gilles Grateau (2002). "New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes". American journal of human genetics. 70 (6): 1498–1506. PMID 11992256. Unknown parameter
|month=ignored (help) - ↑ Jerome Feldmann, Anne-Marie Prieur, Pierre Quartier, Patrick Berquin, Stephanie Certain, Elisabetta Cortis, Dominique Teillac-Hamel, Alain Fischer & Genevieve de Saint Basile (2002). "Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes". American journal of human genetics. 71 (1): 198–203. PMID 12032915. Unknown parameter
|month=ignored (help) - ↑ C. Boschan, O. Witt, P. Lohse, I. Foeldvari, H. Zappel & L. Schweigerer (2006). "Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment". American journal of medical genetics. Part A. 140 (8): 883–886. doi:10.1002/ajmg.a.31148. PMID 16532456. Unknown parameter
|month=ignored (help) - ↑ {{Cite journal
| author = Qing Zhou, Geun-Shik Lee, Jillian Brady, Shrimati Datta, Matilda Katan, Afzal Sheikh, Marta S. Martins, Tom D. Bunney, Brian H. Santich, Susan Moir, Douglas B. Kuhns, Debra A. Long Priel, Amanda Ombrello, Deborah Stone, Michael J. Ombrello, Javed Khan, Joshua D. Milner, Daniel L. Kastner & Ivona Aksentijevich
| title = A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
| journal = American journal of human genetics
| volume = 91
| issue = 4
| pages = 713–720
| year = 2012
| month = October
| doi = 10.1016/j.ajhg.2012.08.006
| pmid = 23000145
NLRP1 deficiency
- Autosomal recessive (AR) transmission.
- It is caused by heterozygous or homozygous mutation in the NLRP1 gene on chromosome 17.
- Patients present with skin dyskeratosis, fever, arthritis and autoimmunity.<ref>Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, Frederic Tran Mau-Them, Didier Bessis, Christine Coubes, Eric Frouin, Marieke Seyger, Manon Girard, Jacques Puechberty, Valerie Costes, Michel Rodiere, Aurelia Carbasse, Eric Jeziorski, Pierre Portales, Guillaume Sarrabay, Michel Mondain, Christian Jorgensen, Florence Apparailly, Esther Hoppenreijs, Isabelle Touitou & David Genevieve (2017). "A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)". Annals of the rheumatic diseases. 76 (7): 1191–1198. doi:10.1136/annrheumdis-2016-210021. PMID 27965258. Unknown parameter
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- ↑ Qing Zhou, Hongying Wang, Daniella M. Schwartz, Monique Stoffels, Yong Hwan Park, Yuan Zhang, Dan Yang, Erkan Demirkaya, Masaki Takeuchi, Wanxia Li Tsai, Jonathan J. Lyons, Xiaomin Yu, Claudia Ouyang, Celeste Chen, David T. Chin, Kristien Zaal, Settara C. Chandrasekharappa, Eric P Hanson, Zhen Yu, James C. Mullikin, Sarfaraz A. Hasni, Ingrid E. Wertz, Amanda K. Ombrello, Deborah L. Stone, Patrycja Hoffmann, Anne Jones, Beverly K. Barham, Helen L. Leavis, Annet van Royen-Kerkof, Cailin Sibley, Ezgi D. Batu, Ahmet Gul, Richard M. Siegel, Manfred Boehm, Joshua D. Milner, Seza Ozen, Massimo Gadina, JaeJin Chae, Ronald M. Laxer, Daniel L. Kastner & Ivona Aksentijevich (2016). "Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease". Nature genetics. 48 (1): 67–73. doi:10.1038/ng.3459. PMID 26642243. Unknown parameter
|month=ignored (help) - ↑ Anil K. Agarwal, Chao Xing, George N. DeMartino, Dario Mizrachi, Maria Dolores Hernandez, Ana Berta Sousa, Laura Martinez de Villarreal, Heloisa G. dos Santos & Abhimanyu Garg (2010). "PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome". American journal of human genetics. 87 (6): 866–872. doi:10.1016/j.ajhg.2010.10.031. PMID 21129723. Unknown parameter
|month=ignored (help)</rCOPA defect
- Autosomal dominant (AD) transmission.
- It is caused by heterozygous mutation in the COPA gene on chromosome 1.
- Patients present with interstitial lung disease and inflammatory arthritis.<ref>Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski, Timothy J. Vece, Max Jan, Youbao Sha, Maike Thamsen, Regie L. P. Santos-Cortez, Kwanghyuk Lee, Tomasz Gambin, Lisa R. Forbes, Christopher S. Law, Asbjorg Stray-Pedersen, Mickie H. Cheng, Emily M. Mace, Mark S. Anderson, Dongfang Liu, Ling Fung Tang, Sarah K. Nicholas, Karen Nahmod, George Makedonas, Debra L. Canter, Pui-Yan Kwok, John Hicks, Kirk D. Jones, Samantha Penney, Shalini N. Jhangiani, Michael D. Rosenblum, Sharon D. Dell, Michael R. Waterfield, Feroz R. Papa, Donna M. Muzny, Noah Zaitlen, Suzanne M. Leal, Claudia Gonzaga-Jauregui, Eric Boerwinkle, N. Tony Eissa, Richard A. Gibbs, James R. Lupski, Jordan S. Orange & Anthony K. Shum (2015). "COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis". Nature genetics. 47 (6): 654–660. doi:10.1038/ng.3279. PMID 25894502. Unknown parameter
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- ↑ Neil Romberg, Khatoun Al Moussawi, Carol Nelson-Williams, Amy L. Stiegler, Erin Loring, Murim Choi, John Overton, Eric Meffre, Mustafa K. Khokha, Anita J. Huttner, Brian West, Nikolai A. Podoltsev, Titus J. Boggon, Barbara I. Kazmierczak & Richard P. Lifton (2014). "Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation". Nature genetics. 46 (10): 1135–1139. doi:10.1038/ng.3066. PMID 25217960. Unknown parameter
|month=ignored (help) - ↑ N. M. Lindor, T. M. Arsenault, H. Solomon, C. E. Seidman & M. T. McEvoy (1997). "A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome". Mayo Clinic proceedings. 72 (7): 611–615. doi:10.1016/S0025-6196(11)63565-9. PMID 9212761. Unknown parameter
|month=ignored (help) - ↑ H. A. Majeed, M. Kalaawi, D. Mohanty, A. S. Teebi, M. F. Tunjekar, F. al-Gharbawy, S. A. Majeed & A. H. al-Gazzar (1989). "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings". The Journal of pediatrics. 115 (5 Pt 1): 730–734. PMID 2809904. Unknown parameter
|month=ignored (help) - ↑ Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson, Paul Dancey, Joost Frenkel, Annet van Royen-Kerkhoff, Ron Laxer, Ulf Tedgard, Edward W. Cowen, Tuyet-Hang Pham, Matthew Booty, Jacob D. Estes, Netanya G. Sandler, Nicole Plass, Deborah L. Stone, Maria L. Turner, Suvimol Hill, John A. Butman, Rayfel Schneider, Paul Babyn, Hatem I. El-Shanti, Elena Pope, Karyl Barron, Xinyu Bing, Arian Laurence, Chyi-Chia R. Lee, Dawn Chapelle, Gillian I. Clarke, Kamal Ohson, Marc Nicholson, Massimo Gadina, Barbara Yang, Benjamin D. Korman, Peter K. Gregersen, P. Martin van Hagen, A. Elisabeth Hak, Marjan Huizing, Proton Rahman, Daniel C. Douek, Elaine F. Remmers, Daniel L. Kastner & Raphaela Goldbach-Mansky (2009). "An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist". The New England journal of medicine. 360 (23): 2426–2437. doi:10.1056/NEJMoa0807865. PMID 19494218. Unknown parameter
|month=ignored (help) - ↑ W. J. Peters (1979). "Cherubism: a study of twenty cases from one family". Oral surgery, oral medicine, and oral pathology. 47 (4): 307–311. PMID 285398. Unknown parameter
|month=ignored (help) - ↑ E. B. Blau (1985). "Familial granulomatous arthritis, iritis, and rash". The Journal of pediatrics. 107 (5): 689–693. PMID 4056967. Unknown parameter
|month=ignored (help) - ↑ W.-L. Hwu, C.-F. Yang, C. S. J. Fann, C.-L. Chen, T.-F. Tsai, Y.-H. Chien, S.-C. Chiang, C.-H. Chen, S.-I. Hung, J.-Y. Wu & Y.-T. Chen (2005). "Mapping of psoriasis to 17q terminus". Journal of medical genetics. 42 (2): 152–158. doi:10.1136/jmg.2004.018564. PMID 15689454. Unknown parameter
|month=ignored (help) - ↑ Slaheddine Marrakchi, Philippe Guigue, Blair R. Renshaw, Anne Puel, Xue-Yuan Pei, Sylvie Fraitag, Jihen Zribi, Elodie Bal, Celine Cluzeau, Maya Chrabieh, Jennifer E. Towne, Jason Douangpanya, Christian Pons, Sourour Mansour, Valerie Serre, Hafedh Makni, Nadia Mahfoudh, Faiza Fakhfakh, Christine Bodemer, Josue Feingold, Smail Hadj-Rabia, Michel Favre, Emmanuelle Genin, Mourad Sahbatou, Arnold Munnich, Jean-Laurent Casanova, John E. Sims, Hamida Turki, Herve Bachelez & Asma Smahi (2011). "Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis". The New England journal of medicine. 365 (7): 620–628. doi:10.1056/NEJMoa1013068. PMID 21848462. Unknown parameter
|month=ignored (help) - ↑ Diana C. Blaydon, Paolo Biancheri, Wei-Li Di, Vincent Plagnol, Rita M. Cabral, Matthew A. Brooke, David A. van Heel, Franz Ruschendorf, Mark Toynbee, Amanda Walne, Edel A. O'Toole, Joanne E. Martin, Keith Lindley, Tom Vulliamy, Dominic J. Abrams, Thomas T. MacDonald, John I. Harper & David P. Kelsell (2011). "Inflammatory skin and bowel disease linked to ADAM17 deletion". The New England journal of medicine. 365 (16): 1502–1508. doi:10.1056/NEJMoa1100721. PMID 22010916. Unknown parameter
|month=ignored (help) - ↑ Rune Busk Damgaard, Jennifer A. Walker, Paola Marco-Casanova, Neil V. Morgan, Hannah L. Titheradge, Paul R. Elliott, Duncan McHale, Eamonn R. Maher, Andrew N. J. McKenzie & David Komander (2016). "The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity". Cell. 166 (5): 1215–1230. doi:10.1016/j.cell.2016.07.019. PMID 27523608. Unknown parameter
|month=ignored (help) - ↑ Niovi Setta-Kaffetzi, Michael A. Simpson, Alexander A. Navarini, Varsha M. Patel, Hui-Chun Lu, Michael H. Allen, Michael Duckworth, Herve Bachelez, A. David Burden, Siew-Eng Choon, Christopher E. M. Griffiths, Brian Kirby, Antonios Kolios, Marieke M. B. Seyger, Christa Prins, Asma Smahi, Richard C. Trembath, Franca Fraternali, Catherine H. Smith, Jonathan N. Barker & Francesca Capon (2014). "AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking". American journal of human genetics. 94 (5): 790–797. doi:10.1016/j.ajhg.2014.04.005. PMID 24791904. Unknown parameter
|month=ignored (help) - ↑ J. Aicardi & F. Goutieres (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Annals of neurology. 15 (1): 49–54. doi:10.1002/ana.410150109. PMID 6712192. Unknown parameter
|month=ignored (help) - ↑ Y. Bilginer, A. Duzova, R. Topaloglu, E. D. Batu, K. Boduroglu, S. Gucer, I. Bodur & Y. Alanay (2016). "Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature". Lupus. 25 (7): 760–765. doi:10.1177/0961203316629000. PMID 26854080. Unknown parameter
|month=ignored (help) - ↑ Y. Liu, A. A. Jesus, B. Marrero, D. Yang, S. E. Ramsey, G. A. Montealegre Sanchez, K. Tenbrock, H. Wittkowski, O. Y. Jones, H. S. Kuehn, C.-C. R. Lee, M. A. DiMattia, E. W. Cowen, B. Gonzalez, I. Palmer, J. J. DiGiovanna, A. Biancotto, H. Kim, W. L. Tsai, A. M. Trier, Y. Huang, D. L. Stone, S. Hill, H. J. Kim, C. St Hilaire, S. Gurprasad, N. Plass, D. Chapelle, I. Horkayne-Szakaly, D. Foell, A. Barysenka, F. Candotti, S. M. Holland, J. D. Hughes, H. Mehmet, A. C. Issekutz, M. Raffeld, J. McElwee, J. R. Fontana, C. P. Minniti, S. Moir, D. L. Kastner, M. Gadina, A. C. Steven, P. T. Wingfield, S. R. Brooks, S. D. Rosenzweig, T. A. Fleisher, Z. Deng, M. Boehm, A. S. Paller & R. Goldbach-Mansky (2014). "Activated STING in a vascular and pulmonary syndrome". The New England journal of medicine. 371 (6): 507–518. doi:10.1056/NEJMoa1312625. PMID 25029335. Unknown parameter
|month=ignored (help) - ↑ Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel, Tom Walsh, Judith Barash, Shai Padeh, Abraham Zlotogorski, Yackov Berkun, Joseph J. Press, Masha Mukamel, Isabel Voth, Philip J. Hashkes, Liora Harel, Vered Hoffer, Eduard Ling, Fatos Yalcinkaya, Ozgur Kasapcopur, Ming K. Lee, Rachel E. Klevit, Paul Renbaum, Ariella Weinberg-Shukron, Elif F. Sener, Barbara Schormair, Sharon Zeligson, Dina Marek-Yagel, Tim M. Strom, Mordechai Shohat, Amihood Singer, Alan Rubinow, Elon Pras, Juliane Winkelmann, Mustafa Tekin, Yair Anikster, Mary-Claire King & Ephrat Levy-Lahad (2014). "Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy". The New England journal of medicine. 370 (10): 921–931. doi:10.1056/NEJMoa1307362. PMID 24552285. Unknown parameter
|month=ignored (help) - ↑ Petro Starokadomskyy, Terry Gemelli, Jonathan J. Rios, Chao Xing, Richard C. Wang, Haiying Li, Vladislav Pokatayev, Igor Dozmorov, Shaheen Khan, Naoteru Miyata, Guadalupe Fraile, Prithvi Raj, Zhe Xu, Zigang Xu, Lin Ma, Zhimiao Lin, Huijun Wang, Yong Yang, Dan Ben-Amitai, Naama Orenstein, Huda Mussaffi, Eulalia Baselga, Gianluca Tadini, Eyal Grunebaum, Adrijan Sarajlija, Konrad Krzewski, Edward K. Wakeland, Nan Yan, Maria Teresa de la Morena, Andrew R. Zinn & Ezra Burstein (2016). "DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis". Nature immunology. 17 (5): 495–504. doi:10.1038/ni.3409. PMID 27019227. Unknown parameter
|month=ignored (help) - ↑ Marije E. C. Meuwissen, Rachel Schot, Sofija Buta, Gretel Oudesluijs, Sigrid Tinschert, Scott D. Speer, Zhi Li, Leontine van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H. Lequin, Johan M. Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W. W. Brouwer, Wilfred F. J. Van IJcken, Marta Martin-Fernandez, Irenaeus de Coo, Jeroen Dudink, Femke A. T. de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J. Crow, Frans W. Verheijen, Sandra Pellegrini, Dusan Bogunovic & Grazia M. S. Mancini (2016). "Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome". The Journal of experimental medicine. 213 (7): 1163–1174. doi:10.1084/jem.20151529. PMID 27325888. Unknown parameter
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