Details of Disease | DrugMAP

General Information of Disease (ID: DISPRSL8)

Disease Name	Autoinflammatory syndrome with immunodeficiency
Definition	An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.
Disease Hierarchy	DISCMCGL: Autoinflammatory syndrome DISPRSL8: Autoinflammatory syndrome with immunodeficiency
Disease Identifiers	MONDO ID MONDO_0800130 UMLS CUI C5543547 OMIM ID 619375 MedGen ID 1784363

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SOCS1	TT8COJM	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOCS1	OTWA9KFU	Strong	Autosomal dominant	[1]
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References

1	Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020 Nov;146(5):1194-1200.e1. doi: 10.1016/j.jaci.2020.07.033. Epub 2020 Aug 25.