| Metadata | |
|---|---|
| ID | DOID:0070797 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070797 Copy |
| Name | immunodysregulation with variable immunodeficiency and autoimmunity |
| 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. https://pubmed.ncbi.nlm.nih.gov/34826259/, https://pubmed.ncbi.nlm.nih.gov/34826260/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1351801008 |
| SKOS |
exactMatch MIM:621233 exactMatch ORDO:697389 exactMatch UMLS_CUI:C6012736 |
| Subsets |
DO_rare_slim |
| Synonyms |
IMDIA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |