Term Name: | immunodeficiency 41 |
---|---|
Synonyms: | CD25 deficiency, IL2RA deficiency, IMD41, immunodeficiency 41 with lymphoproliferation and autoimmunity, immunodeficiency due to CD25 deficiency, interleukin-2 receptor alpha chain deficiency |
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. |
Ontology: | Human Disease [DOID:0111968] ( DOID:0111968 ) |