Familial autoinflammatory syndrome with or without immunodeficiency
Definition:
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.
References:
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[1]. Jérôme Hadjadj, et al. Early-onset autoimmunity associated with SOCS1 haploinsufficiency. Nat Commun. 2020 Oct 21;11(1):5341. [Content Brief]
[2]. W S Alexander, et al. SOCS1 is a critical inhibitor of interferon gamma signaling and prevents the potentially fatal neonatal actions of this cytokine. Cell. 1999 Sep 3;98(5):597-608. [Content Brief]
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