KEGG   DISEASE: 免疫不全を伴う(または伴わない)家族性自己炎症症候群
エントリ  
H02561                                                             
名称    
免疫不全を伴う(または伴わない)家族性自己炎症症候群
概要    
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.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  自己炎症性疾患
   4A60  単一遺伝子性自己炎症性疾患
    H02561  免疫不全を伴う(または伴わない)家族性自己炎症症候群
パスウェイ 
hsa04630  JAK-STAT signaling pathway
hsa04380  Osteoclast differentiation
hsa04917  Prolactin signaling pathway
hsa04120  Ubiquitin mediated proteolysis
病因遺伝子 
SOCS1 [HSA:8651] [KO:K04694]
リンク   
ICD-11: 4A60.Y
OMIM: 619375
文献    
  著者
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
  タイトル
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
  雑誌
Nat Commun 11:5341 (2020)
DOI:10.1038/s41467-020-18925-4
文献    
  著者
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
  タイトル
SOCS1 is a critical inhibitor of interferon gamma signaling and prevents the potentially fatal neonatal actions of this cytokine.
  雑誌
Cell 98:597-608 (1999)
DOI:10.1016/s0092-8674(00)80047-1
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