Human genes for immunodeficiency 41
Immunodeficiency 41 [DOID:0111968]
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 IL2RA on chromosome 10p15.1.
Synonyms: immunodeficiency 41, DOID:0111968, CD25 deficiency, IL2RA deficiency, IMD41 ...