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Disease Ontology Browser
immunodysregulation with variable immunodeficiency and autoimmunity (DOID:0070797)
Alliance: disease page
Synonyms: IMDIA
Alt IDs: OMIM:621233, ORDO:697389, UMLS_CUI:C5968970, UMLS_CUI:C6012736
Definition: An immune system disease characterized by variable manifestations ranging from immunodeficiency, including recurrent respiratory infections and chronic fungal or viral infections often associated with lymphopenia and hypogammaglobulinemia, to features of a primary immune regulatory disorder, including autoimmunity, autoinflammation, lymphoproliferation, systemic lupus erythematosus, and EBV-associated hemophagocytic lymphohistiocytosis, that has_material_basis_in putative loss-of-function mutation in the IKZF2 gene on chromosome 2q34.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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07/14/2026
MGI 6.24 		The Jackson Laboratory