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DO Term : immunodeficiency 63 [DOID:0111997] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.
  • synonyms:
  • OMIM:618495,
  • IL2RB deficiency,
  • UMLS_CUI:C5193126,
  • immunodeficiency 63 with lymphoproliferation and autoimmunity,
  • 618495,
  • IMD63
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