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DO Term : immunodeficiency 56 [DOID:0111982] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1.
  • synonyms:
  • IL21R immunodeficiency,
  • 615207,
  • IMD56,
  • OMIM:615207,
  • combined immunodeficiency due to IL21R deficiency,
  • UMLS_CUI:C3554687,
  • ORDO:357329
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