OBO ID: DOID:0111968
Term Name: immunodeficiency 41 Search Ontology:
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 IL2RA on chromosome 10p15.1. (2)
References:
Ontology: Human Disease   (DOID:0111968)
OTHER immunodeficiency 41 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity 606367
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None