| Metadata | |
|---|---|
| ID | DOID:0111968 |
| Name | immunodeficiency 41 |
| Definition | A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. https://pubmed.ncbi.nlm.nih.gov/23416241/, https://pubmed.ncbi.nlm.nih.gov/9096364/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CD25 deficiency [EXACT] IL2RA deficiency [EXACT] IMD41 [EXACT] immunodeficiency 41 with lymphoproliferation and autoimmunity [EXACT] immunodeficiency due to CD25 deficiency [EXACT] interleukin-2 receptor alpha chain deficiency [EXACT] |
| Parent Relationships |