Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111968 )
Relationships
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Genes Involved
Zebrafish Models