immunodeficiency 41

Term ID

DOID:0111968

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. (2)

References

• MESH:C565232
• OMIM:606367
• ORDO:169100

Ontology

Human Disease   ( DOID:0111968 )