Auto-inflammatory disorders: Difference between revisions

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==Overview==
==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.
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==
==Classification==
{{Family tree/start}}
{{Family tree/start}}
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{{Family tree | B01 | | | | B02 | | | | B03 | | | | | B04 | | | | | | B05 | | |B01=Recurrent inflammation|B02=Systemic inflammation with urticaria rash|B03=Others|B04=Sterile inflammation (skin/bone/joints)|B05=Type 1 Interferonopathies}}
{{Family tree | B01 | | | | B02 | | | | B03 | | | | | B04 | | | | | | B05 | | |B01=Recurrent inflammation|B02=Systemic inflammation with urticaria rash|B03=Others|B04=Sterile inflammation (skin/bone/joints)|B05=Type 1 Interferonopathies}}
{{Family tree |!| | | | | |!| | | | | |!| | | | | |,|-|^|-|-|.| | | |!| | | | |}}
{{Family tree |!| | | | | |!| | | | | |!| | | | | |,|-|^|-|-|.| | | |!| | | | |}}
{{Family tree |)| C01 | | |)| D01 | | |)| E01 | | F01 | | | G01 | | |)| H01 | |C01=[[Familial Mediterranean Fever]]|D01=[[Familial Cold Autoinflammatory Syndrome]]|E01=CANDLE syndrome|F01=Predominant on the bone/joints|G01=Predominant on the skin|H01=[[Aicardi-Goutieres syndrome]]}}
{{Family tree |)| C01 | | |)| D01 | | |)| E01 | | F01 | | | G01 | | |)| H01 | |C01=[[Familial mediterranean fever]]|D01=[[Familial cold autoinflammatory syndrome]]|E01=CANDLE syndrome|F01=Predominant on the bone/joints|G01=Predominant on the skin|H01=[[Aicardi-Goutieres syndrome]]}}
{{Family tree |!| | | | | |!| | | | | |!| | | | |!| | | | |!| | | | |!| | | | |}}
{{Family tree |!| | | | | |!| | | | | |!| | | | |!| | | | |!| | | | |!| | | | |}}
{{Family tree |)| C02 | | |)| D02 | | |)| E02 | |)| F02 | |)| G02 | |)| H02 | |C02=[[Mevalonate kinase deficiency]]|D02=[[Muckle-Wells syndrome]]|E02=COPA defect|F02=Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia|G02=[[Blau syndrome]]|H02=Spondyloenchondro-dysplasia with immune dysregulation}}
{{Family tree |)| C02 | | |)| D02 | | |)| E02 | |)| F02 | |)| G02 | |)| H02 | |C02=[[Mevalonate kinase deficiency]]|D02=[[Muckle-Wells syndrome]]|E02=COPA defect|F02=Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia|G02=[[Blau syndrome]]|H02=[[Spondyloenchondro-dysplasia with immune dysregulation]]}}
{{Family tree |!| | | | | |!| | | | | |!| | | | |!| | | | |!| | | | |!| | | | |}}
{{Family tree |!| | | | | |!| | | | | |!| | | | |!| | | | |!| | | | |!| | | | |}}
{{Family tree |`| C03 | | |)| D03 | | |`| E03 | |)| F03 | |)| G03 | |)| H03 | |C03=TNF receptor-associated periodic syndrome; TRAPS|D03=[[Neonatal onset multisystem inflammatory disease]]|E03=NLRC4-MAS(Macrophage activating syndrome)|F03=Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)|G03=CAMPS|H03=STING-associated vasculopathy, infantile onset}}
{{Family tree |`| C03 | | |)| D03 | | |`| E03 | |)| F03 | |)| G03 | |)| H03 | |C03=TNF receptor-associated periodic syndrome; TRAPS|D03=[[Neonatal onset multisystem inflammatory disease]]|E03=NLRC4-MAS(Macrophage activating syndrome)|F03=Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)|G03=CAMPS|H03=STING-associated vasculopathy, infantile onset}}
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  | pmid = 9177779
  | pmid = 9177779
}}</ref>
}}</ref>
*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
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*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]].
For more information about [[mevalonate kinase deficiency]], [[Mevalonate kinase deficiency|click here]].


==TNF receptor-associated periodic syndrome==
==TNF receptor-associated periodic syndrome==
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  | pmid = 11742050
  | pmid = 11742050
}}</ref>
}}</ref>
*It is caused by heterozygous mutation in the tumor necrosis factor receptor-1 gene (TNFRSF1A) on [[chromosome 12]].<ref>{{Cite journal
*It is caused by heterozygous mutation in the [[Tumor necrosis factor receptor 1|tumor necrosis factor receptor-1 gene]] (TNFRSF1A) on [[chromosome 12]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Linkage of familial Hibernian fever to chromosome 12p13
  | title = Linkage of familial Hibernian fever to chromosome 12p13
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For more information about [[Familial cold autoinflammatory syndrome|familial cold auto-inflammatory syndrome]], [[Familial cold autoinflammatory syndrome|click here]].
For more information about [[Familial cold autoinflammatory syndrome|familial cold auto-inflammatory syndrome]], [[Familial cold autoinflammatory syndrome|click here]].


==Muckle Wells Syndrome==
==Muckle-Wells Syndrome==
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
  | author = [[L. Cuisset]], [[J. P. Drenth]], [[J. M. Berthelot]], [[A. Meyrier]], [[G. Vaudour]], [[R. A. Watts]], [[D. G. Scott]], [[A. Nicholls]], [[S. Pavek]], [[C. Vasseur]], [[J. S. Beckmann]], [[M. Delpech]] & [[G. Grateau]]
  | author = [[L. Cuisset]], [[J. P. Drenth]], [[J. M. Berthelot]], [[A. Meyrier]], [[G. Vaudour]], [[R. A. Watts]], [[D. G. Scott]], [[A. Nicholls]], [[S. Pavek]], [[C. Vasseur]], [[J. S. Beckmann]], [[M. Delpech]] & [[G. Grateau]]
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  | pmid = 11992256
  | pmid = 11992256
}}</ref>
}}</ref>
For more information about [[Muckle-Wells Syndrome|Muckle Wells syndrome]], [[Muckle-Wells Syndrome|click here]].
For more information about [[Muckle-Wells syndrome]], [[Muckle-Wells Syndrome|click here]].


==Neonatal onset multisystem inflammatory disease==
==Neonatal onset multisystem inflammatory disease==
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]].
*Patients present with [[skin rashes]], severe [[arthritis]] and chronic [[meningitis]].<ref>{{Cite journal
  | author = [[Jerome Feldmann]], [[Anne-Marie Prieur]], [[Pierre Quartier]], [[Patrick Berquin]], [[Stephanie Certain]], [[Elisabetta Cortis]], [[Dominique Teillac-Hamel]], [[Alain Fischer]] & [[Genevieve de Saint Basile]]
  | author = [[Jerome Feldmann]], [[Anne-Marie Prieur]], [[Pierre Quartier]], [[Patrick Berquin]], [[Stephanie Certain]], [[Elisabetta Cortis]], [[Dominique Teillac-Hamel]], [[Alain Fischer]] & [[Genevieve de Saint Basile]]
  | title = Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
  | title = Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
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  | pmid = 12032915
  | pmid = 12032915
}}</ref>
}}</ref>
*Treatment with the IL1R antagonist [[Anakinra]] has shown marked improvement in a number of patients.<ref>{{Cite journal
*It is caused by heterozygous mutation in the NLRP3 gene on [[chromosome 1]].
*Patients present with [[skin rashes]], severe [[arthritis]] and chronic [[meningitis]].
*Treatment with the IL1R antagonist [[anakinra]] has shown marked improvement in a number of patients.<ref>{{Cite journal
  | author = [[C. Boschan]], [[O. Witt]], [[P. Lohse]], [[I. Foeldvari]], [[H. Zappel]] & [[L. Schweigerer]]
  | author = [[C. Boschan]], [[O. Witt]], [[P. Lohse]], [[I. Foeldvari]], [[H. Zappel]] & [[L. Schweigerer]]
  | title = Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment
  | title = Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment
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  | pmid = 16532456
  | pmid = 16532456
}}</ref>
}}</ref>
For more information about [[Neonatal onset multisystem inflammatory disease]] , [[Neonatal onset multisystem inflammatory disease|click here]].
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.<ref>{{Cite journal
*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.<ref>{{Cite journal
<nowiki> </nowiki><nowiki>|</nowiki> 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]]
<nowiki> </nowiki><nowiki>|</nowiki> 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
  | title = A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
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  | doi = 10.1016/j.ajhg.2012.08.006
  | doi = 10.1016/j.ajhg.2012.08.006
  | pmid = 23000145
  | pmid = 23000145
</ref>
*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.


==NLRP1 deficiency==
==NLRP1 deficiency==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref name="pmid27965258">{{cite journal| author=Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C et al.| title=A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). | journal=Ann Rheum Dis | year= 2017 | volume= 76 | issue= 7 | pages= 1191-1198 | pmid=27965258 | doi=10.1136/annrheumdis-2016-210021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27965258 }} </ref>
*It is caused by heterozygous or homozygous mutation in the NLRP1 gene on chromosome 17.
*It is caused by heterozygous or homozygous mutation in the [[NLRP1]] gene on [[chromosome 17]].
*Patients present with skin dyskeratosis, fever, arthritis and autoimmunity.<nowiki><ref></nowiki>{{Cite journal
*Patients present with skin dyskeratosis, [[fever]], [[arthritis]] and [[autoimmunity]].
| author = [[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]]
| title = A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)
| journal = [[Annals of the rheumatic diseases]]
| volume = 76
| issue = 7
| pages = 1191–1198
| year = 2017
| month = July
| doi = 10.1136/annrheumdis-2016-210021
| pmid = 27965258
}}</ref>


==A20 halpoinsufficiency==  
==A20 halpoinsufficiency==  
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*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]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
  | title = Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
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  | pmid = 26642243
  | pmid = 26642243
}}</ref>
}}</ref>
*It is caused by heterozygous mutation in the [[TNFAIP3]] gene on [[chromosome 6]].
*Patients present with mucosal [[Mouth ulcers|ulcers]], particularly in the oral and genital areas, in addition to [[uveitis]] and [[arthritis]].


==Candle syndrome==
==Candle syndrome==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
| author = [[M. Tanaka]], [[N. Miyatani]], [[S. Yamada]], [[K. Miyashita]], [[I. Toyoshima]], [[K. Sakuma]], [[K. Tanaka]], [[T. Yuasa]], [[T. Miyatake]] & [[T. Tsubaki]]
| title = Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome
| journal = [[Internal medicine (Tokyo, Japan)]]
| volume = 32
| issue = 1
| pages = 42–45
| year = 1993
| month = January
| pmid = 8495043
}}</ref>
*It is caused by homozygous mutation in the [[PSMB8]] gene on [[chromosome 6]].
*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.<ref>{{Cite journal
*Patients present with erythematous plaques on the face and extremities, recurrent [[fever]], severe joint [[contractures]], [[muscle weakness]] and [[atrophy]], [[hepatosplenomegaly]] and [[Basal ganglia calcification|basal ganglia calcifications]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
  | title = PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
Line 293: Line 293:
  | doi = 10.1016/j.ajhg.2010.10.031
  | doi = 10.1016/j.ajhg.2010.10.031
  | pmid = 21129723
  | pmid = 21129723
}}</r
}}</ref>


==COPA defect==
==COPA defect==
*Autosomal dominant (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*It is caused by heterozygous mutation in the COPA gene on chromosome 1.
*Patients present with interstitial lung disease and inflammatory arthritis.<nowiki><ref></nowiki>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
  | title = COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Line 310: Line 308:
  | pmid = 25894502
  | pmid = 25894502
}}</ref>
}}</ref>
   
*It is caused by heterozygous mutation in the [[COPA (gene)|COPA]] gene on [[chromosome 1]].
*Patients present with [[interstitial lung disease]] and [[inflammatory arthritis]].
 
==NLRC4-MAS (Macrophage activating syndrome)==
==NLRC4-MAS (Macrophage activating syndrome)==
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*It is caused by heterozygous mutation in the [[NLRC4]] gene on [[chromosome 2]].
*Patients present with severe [[enterocolitis]] and episodes of severe auto-inflammation.<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
  | title = Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
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  | pmid = 25217960
  | pmid = 25217960
}}</ref>
}}</ref>
*It is caused by heterozygous mutation in the [[NLRC4]] gene on [[chromosome 2]].
*Patients present with severe [[enterocolitis]] and episodes of severe auto-inflammation.


==Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia==
==Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, hyperzincemia and hypercalprotectinemia==
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*It is caused by heterozygous mutation in the [[PSTPIP1]] gene on [[chromosome 15]].
*Patients present with [[pyogenic arthritis]], [[pyoderma gangrenosum]], and severe [[cystic acne]].<ref>{{Cite journal
  | author = [[N. M. Lindor]], [[T. M. Arsenault]], [[H. Solomon]], [[C. E. Seidman]] & [[M. T. McEvoy]]
  | author = [[N. M. Lindor]], [[T. M. Arsenault]], [[H. Solomon]], [[C. E. Seidman]] & [[M. T. McEvoy]]
  | title = A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome
  | title = A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome
Line 342: Line 340:
  | pmid = 9212761
  | pmid = 9212761
}}</ref>
}}</ref>
*It is caused by heterozygous mutation in the [[PSTPIP1]] gene on [[chromosome 15]].
*Patients present with [[pyogenic arthritis]], [[pyoderma gangrenosum]], and severe [[cystic acne]].
   
   
==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]].<ref>{{Cite journal
*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 356: Line 355:
  | pmid = 2809904
  | pmid = 2809904
}}</ref>
}}</ref>
*Patients present with chronic, recurrent multifocal [[osteomyelitis]] (CRMO) and transfusion-dependant anemia.


==DIRA (Deficiency of the interleukin 1 receptor antagonist)==
==DIRA (Deficiency of the interleukin 1 receptor antagonist)==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous mutation in the IL1RN gene on [[chromosome 2]].
*Patients present with sterile multifocal osteomyelitis, [[periostitis]], and [[pustulosis]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
  | title = An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
Line 372: Line 370:
  | pmid = 19494218
  | pmid = 19494218
}}</ref>
}}</ref>
*It is caused by homozygous mutation in the IL1RN gene on [[chromosome 2]].
*Patients present with sterile multifocal [[osteomyelitis]], [[periostitis]], and [[pustulosis]].


==Cherubism==
==Cherubism==
*[[Autosomal dominant]] (AD) tranmission.
*[[Autosomal dominant]] (AD) tranmission.<ref>{{Cite journal
*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.<ref>{{Cite journal
  | author = [[W. J. Peters]]
  | author = [[W. J. Peters]]
  | title = Cherubism: a study of twenty cases from one family
  | title = Cherubism: a study of twenty cases from one family
Line 387: Line 385:
  | pmid = 285398
  | pmid = 285398
}}</ref>
}}</ref>
*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]].
For more information about [[cherubism]], [[Cherubism|click here]].
For more information about [[cherubism]], [[Cherubism|click here]].


==Blau syndrome==
==Blau syndrome==
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*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.<ref>{{Cite journal
  | author = [[E. B. Blau]]
  | author = [[E. B. Blau]]
  | title = Familial granulomatous arthritis, iritis, and rash
  | title = Familial granulomatous arthritis, iritis, and rash
Line 403: Line 401:
  | pmid = 4056967
  | pmid = 4056967
}}</ref>
}}</ref>
*It is caused by heterozygous mutation in the [[NOD2]]/[[CARD15]] gene on [[chromosome 16]].
*Patients present with [[granulomatous]] [[arthritis]], [[iritis]], [[Rash|skin rash]] and flexion contractures of the fingers and toes.
For more information about [[Blau syndrome]], [[Blau syndrome|click here]].
For more information about [[Blau syndrome]], [[Blau syndrome|click here]].


==CAMPS (CARD14 mediated psoriasis)==
==CAMPS (CARD14 mediated psoriasis)==
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*It is caused by heterozygous mutation in the [[CARD14]] gene on [[chromosome 17]].
*Patients present with [[psoriasis]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Mapping of psoriasis to 17q terminus
  | title = Mapping of psoriasis to 17q terminus
Line 420: Line 418:
  | pmid = 15689454
  | pmid = 15689454
}}</ref>
}}</ref>
*It is caused by heterozygous mutation in the [[CARD14]] gene on [[chromosome 17]].
*Patients present with [[psoriasis]].


==DITRA (Deficiency of IL-36 receptor anatagonist)==
==DITRA (Deficiency of IL-36 receptor anatagonist)==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*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]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis
  | title = Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis
Line 436: Line 434:
  | pmid = 21848462
  | pmid = 21848462
}}</ref>
}}</ref>
*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]].


==ADAM17 deficiency==
==ADAM17 deficiency==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*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.<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Inflammatory skin and bowel disease linked to ADAM17 deletion
  | title = Inflammatory skin and bowel disease linked to ADAM17 deletion
Line 452: Line 450:
  | pmid = 22010916
  | pmid = 22010916
}}</ref>
}}</ref>
*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 ''[[Staphylococcus aureus]]'' causing [[otitis externa]]  and recurrent [[blepharitis]] might also occur. Patients may also present with early-onset malabsorptive diarrhea and broken, wiry hair.
      
      
==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 (Solute carrier family 29 (nucleoside transporter), member 3) 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]].<ref name="pmid18940313">{{cite journal| author=Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V et al.| title=The H syndrome is caused by mutations in the nucleoside transporter hENT3. | journal=Am J Hum Genet | year= 2008 | volume= 83 | issue= 4 | pages= 529-34 | pmid=18940313 | doi=10.1016/j.ajhg.2008.09.013 | pmc=2561939 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18940313  }} </ref>
*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.<ref>{{Cite journal
*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.<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity
  | title = The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity
Line 473: Line 471:
  | pmid = 27523608
  | pmid = 27523608
}}</ref>
}}</ref>
*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.
      
      
==AP1S3 deficiency==
==AP1S3 deficiency==
* Also known as Adaptor-related protein complex 1, sigma-3 subunit deficiency.
* Also known as adaptor-related protein complex 1, sigma-3 subunit deficiency.
 
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*[[Autosomal dominant]] (AD) transmission.
*It is caused by heterozygous mutation in the AP1S3 gene on [[chromosome 2]].
*Patients present with [[pustular psoriasis]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking
  | title = AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking
Line 491: Line 488:
  | pmid = 24791904
  | pmid = 24791904
}}</ref>  
}}</ref>  
*It is caused by heterozygous mutation in the AP1S3 gene on [[chromosome 2]].
*Patients present with [[pustular psoriasis]].


==Aicardi-Goutieres syndrome==
==Aicardi-Goutieres syndrome==
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==Spondyloenchondro-dysplasia with immune dysregulation==
==Spondyloenchondro-dysplasia with immune dysregulation==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*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 antibodies|antinuclear]] and anti-dsDNA antibodies.<ref>{{Cite journal
  | author = [[Y. Bilginer]], [[A. Duzova]], [[R. Topaloglu]], [[E. D. Batu]], [[K. Boduroglu]], [[S. Gucer]], [[I. Bodur]] & [[Y. Alanay]]
  | author = [[Y. Bilginer]], [[A. Duzova]], [[R. Topaloglu]], [[E. D. Batu]], [[K. Boduroglu]], [[S. Gucer]], [[I. Bodur]] & [[Y. Alanay]]
  | title = Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature
  | title = Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature
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  | doi = 10.1177/0961203316629000
  | doi = 10.1177/0961203316629000
  | pmid = 26854080
  | pmid = 26854080
}}</ref>[[Hemolytic anemia]], [[thrombocytopenia]]  and skeletal dysplasias are also some other characteristic features of this disease.
}}</ref>
*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 antibodies|antinuclear]] and anti-dsDNA antibodies.
*[[Hemolytic anemia]], [[thrombocytopenia]]  and skeletal dysplasias are also some other characteristic features of this disease.


==STING-associated vasculopathy-infantile onset==
==STING-associated vasculopathy-infantile onset==
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*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]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Activated STING in a vascular and pulmonary syndrome
  | title = Activated STING in a vascular and pulmonary syndrome
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  | pmid = 25029335
  | pmid = 25029335
}}</ref>
}}</ref>
*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]].
==Adenosine deaminase 2 deficiency==
==Adenosine deaminase 2 deficiency==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*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.<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
  | title = Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
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  | pmid = 24552285
  | pmid = 24552285
}}</ref>
}}</ref>
*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.


==XL reticulate pigmentary disorder==
==XL reticulate pigmentary disorder==
*[[X-linked recessive]] (XLR) transmission.
*[[X-linked recessive]] (XLR) transmission.<ref name="pmid7977467">{{cite journal| author=Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW| title=Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis. | journal=Am J Med Genet | year= 1994 | volume= 52 | issue= 1 | pages= 75-8 | pmid=7977467 | doi=10.1002/ajmg.1320520115 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7977467  }} </ref>
*It is caused by hemizygous or heterozygous mutation in the [[POLA1]] gene on chromosome Xp22.
*It is caused by hemizygous or heterozygous mutation in the [[POLA1]] gene on chromosome Xp22.
*Patients may develop recurrent [[Pneumonia|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).<ref>{{Cite journal
*Patients may develop recurrent [[Pneumonia|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).<ref>{{Cite journal
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==USP18 deficiency==
==USP18 deficiency==
* Also known as uniquitin-specific protease 18.
* Also known as uniquitin-specific protease 18.
 
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*[[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 [[Seizure|seizures]].<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
  | title = Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
Line 589: Line 589:
  | pmid = 27325888
  | pmid = 27325888
}}</ref>
}}</ref>
 
*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 [[Seizure|seizures]].


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 17:41, 2 November 2018

Immunodeficiency Main Page

Home

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]; 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
 
 
 
 
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
 
 
 
 
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)
 
 
 
 
 
 
 
 
 
DIRA (Deficiency of the interleukin 1 receptor antagonist)
 
 
 
DITRA
 
 
 
Adenosine deaminase 2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
NLRP1 deficiency
 
 
 
 
 
 
 
 
 
Cherubism
 
 
 
ADAM17 deficiency
 
 
 
XL reticulate pigmentary disorder
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
A20 haploinsufficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SLC29A3 mutation
 
 
 
USP18 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Otulipenia/ORAS
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
AP153 deficiency
 
 
 
 
 
 
 

Familial Mediterranean Fever

For more information about familial mediterranean fever, click here.

Mevalonate kinase deficiency (Hyper IgD syndrome)

For more information about mevalonate kinase deficiency, click here.

TNF receptor-associated periodic syndrome

Familial Cold Auto-Inflammatory Syndrome

For more information about familial cold auto-inflammatory syndrome, click here.

Muckle-Wells Syndrome

For more information about Muckle-Wells syndrome, click here.

Neonatal onset multisystem inflammatory disease

For more information about neonatal onset multisystem inflammatory disease, click here.

PLAID (PLCg2 associated antibody deficiency and immune dysregulation)

NLRP1 deficiency

A20 halpoinsufficiency

Candle syndrome

COPA defect

NLRC4-MAS (Macrophage activating syndrome)

Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, hyperzincemia and hypercalprotectinemia

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.[24]
  • Patients present with chronic, recurrent multifocal osteomyelitis (CRMO) and transfusion-dependant anemia.

DIRA (Deficiency of the interleukin 1 receptor antagonist)

Cherubism

For more information about cherubism, click here.

Blau syndrome

For more information about Blau syndrome, click here.

CAMPS (CARD14 mediated psoriasis)

DITRA (Deficiency of IL-36 receptor anatagonist)

ADAM17 deficiency

SLC29A3 mutation

Otulipenia

AP1S3 deficiency

Aicardi-Goutieres syndrome

For more information about Aicardi-Goutieres syndrome, click here.

Spondyloenchondro-dysplasia with immune dysregulation

STING-associated vasculopathy-infantile onset

Adenosine deaminase 2 deficiency

XL reticulate pigmentary disorder

USP18 deficiency

References

  1. ↑ D. B. Rogers, M. Shohat, G. M. Petersen, J. Bickal, J. Congleton, A. D. Schwabe & J. I. Rotter (1989). "Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency". American journal of medical genetics. 34 (2): 168–172. doi:10.1002/ajmg.1320340206. PMID 2816993. Unknown parameter |month= ignored (help)
  2. ↑ R. Sood, T. Blake, I. Aksentijevich, G. Wood, X. Chen, D. Gardner, D. A. Shelton, M. Mangelsdorf, A. Orsborn, E. Pras, J. E. Jr Balow, M. Centola, Z. Deng, N. Zaks, X. Chen, N. Richards, N. Fischel-Ghodsian, J. I. Rotter, M. Pras, M. Shohat, L. L. Deaven, D. L. Gumucio, D. F. Callen, R. I. Richards & N. A. Doggett (1997). "Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3". Genomics. 42 (1): 83–95. PMID 9177779. Unknown parameter |month= ignored (help)
  3. ↑ 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)
  4. ↑ 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)
  5. ↑ J. P. Drenth & J. W. van der Meer (2001). "Hereditary periodic fever". The New England journal of medicine. 345 (24): 1748–1757. doi:10.1056/NEJMra010200. PMID 11742050. Unknown parameter |month= ignored (help)
  6. ↑ J. P. Drenth & J. W. van der Meer (2001). "Hereditary periodic fever". The New England journal of medicine. 345 (24): 1748–1757. doi:10.1056/NEJMra010200. PMID 11742050. Unknown parameter |month= ignored (help)
  7. ↑ 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)
  8. ↑ 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.
  9. ↑ 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)
  10. ↑ H. M. Hoffman, F. A. Wright, D. H. Broide, A. A. Wanderer & R. D. Kolodner (2000). "Identification of a locus on chromosome 1q44 for familial cold urticaria". American journal of human genetics. 66 (5): 1693–1698. doi:10.1086/302874. PMID 10741953. Unknown parameter |month= ignored (help)
  11. ↑ C. M. Zip, J. B. Ross, M. W. Greaves, C. R. Scriver, J. J. Mitchell & S. Zoar (1993). "Familial cold urticaria". Clinical and experimental dermatology. 18 (4): 338–341. PMID 8403471. Unknown parameter |month= ignored (help)
  12. ↑ L. Cuisset, J. P. Drenth, J. M. Berthelot, A. Meyrier, G. Vaudour, R. A. Watts, D. G. Scott, A. Nicholls, S. Pavek, C. Vasseur, J. S. Beckmann, M. Delpech & G. Grateau (1999). "Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44". American journal of human genetics. 65 (4): 1054–1059. doi:10.1086/302589. PMID 10486324. Unknown parameter |month= ignored (help)
  13. ↑ 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)
  14. ↑ 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)
  15. ↑ 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)
  16. ↑ {{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
  17. ↑ Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C; et al. (2017). "A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)". Ann Rheum Dis. 76 (7): 1191–1198. doi:10.1136/annrheumdis-2016-210021. PMID 27965258.
  18. ↑ 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)
  19. ↑ M. Tanaka, N. Miyatani, S. Yamada, K. Miyashita, I. Toyoshima, K. Sakuma, K. Tanaka, T. Yuasa, T. Miyatake & T. Tsubaki (1993). "Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome". Internal medicine (Tokyo, Japan). 32 (1): 42–45. PMID 8495043. Unknown parameter |month= ignored (help)
  20. ↑ 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)
  21. ↑ 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 |month= ignored (help)
  22. ↑ 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)
  23. ↑ 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)
  24. ↑ 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)
  25. ↑ 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)
  26. ↑ 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)
  27. ↑ 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)
  28. ↑ 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)
  29. ↑ 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)
  30. ↑ 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)
  31. ↑ Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V; et al. (2008). "The H syndrome is caused by mutations in the nucleoside transporter hENT3". Am J Hum Genet. 83 (4): 529–34. doi:10.1016/j.ajhg.2008.09.013. PMC 2561939. PMID 18940313.
  32. ↑ 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)
  33. ↑ 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)
  34. ↑ 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)
  35. ↑ 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)
  36. ↑ 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)
  37. ↑ 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)
  38. ↑ Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW (1994). "Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis". Am J Med Genet. 52 (1): 75–8. doi:10.1002/ajmg.1320520115. PMID 7977467.
  39. ↑ 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)
  40. ↑ 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 |month= ignored (help)
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