Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 41
DOID:0111968
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • CD25 deficiency
  • IL2RA deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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