has material basis in germline mutation in SOCS1 autoinflammatory syndrome hereditary disorder of connective tissue autoinflammatory syndrome with immunodeficiency https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/autoinflammatory_syndrome_familial_with_or_without_immunodeficiency UMLS:C5543547 GARD:0026448 OMIM:619375 MONDO:0800130 MEDGEN:1784363 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.