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 )

Relationships
is a type of: autosomal recessive disease combined immunodeficiency