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DO Term : immunodeficiency 35 [DOID:0111989] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.
  • synonyms:
  • 611521,
  • IMD35,
  • susceptibility to infection due to TYK2 deficiency,
  • tyrosine kinase 2 deficiency,
  • ORDO:331226,
  • OMIM:611521,
  • autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis,
  • autosomal recessiv HIES with atypical mycobacteriosis,
  • TYK2 deficiency,
  • MESH:C566928
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