KEGG   DISEASE: Familial autoinflammatory syndrome with or without immunodeficiency
Entry
H02561                      Disease                                
Name
Familial autoinflammatory syndrome with or without immunodeficiency
Description
Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is an early onset autoimmune disease caused by mutations in the SOCS1 gene. Patients have autoimmune cytopenia and organ-specific autoimmunity. Some patients may have symptoms of systemic lupus erythematosus [DS: H00080], or lymphoproliferation.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02561  Familial autoinflammatory syndrome with or without immunodeficiency
Pathway
hsa04630  JAK-STAT signaling pathway
hsa04380  Osteoclast differentiation
hsa04917  Prolactin signaling pathway
hsa04120  Ubiquitin mediated proteolysis
Gene
SOCS1 [HSA:8651] [KO:K04694]
Other DBs
ICD-11: 4A60.Y
ICD-10: D89.8
OMIM: 619375
Reference
  Authors
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F
  Title
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
  Journal
Nat Commun 11:5341 (2020)
DOI:10.1038/s41467-020-18925-4
Reference
  Authors
Alexander WS, Starr R, Fenner JE, Scott CL, Handman E, Sprigg NS, Corbin JE, Cornish AL, Darwiche R, Owczarek CM, Kay TW, Nicola NA, Hertzog PJ, Metcalf D, Hilton DJ
  Title
SOCS1 is a critical inhibitor of interferon gamma signaling and prevents the potentially fatal neonatal actions of this cytokine.
  Journal
Cell 98:597-608 (1999)
DOI:10.1016/s0092-8674(00)80047-1
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