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DO Term : immunodeficiency 41 [DOID:0111968] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C565232,
  • CD25 deficiency,
  • immunodeficiency 41 with lymphoproliferation and autoimmunity,
  • IL2RA deficiency,
  • ORDO:169100,
  • 606367,
  • IMD41,
  • interleukin-2 receptor alpha chain deficiency,
  • immunodeficiency due to CD25 deficiency,
  • OMIM:606367
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