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DO Term : immunodeficiency 32B [DOID:0111985] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
  • synonyms:
  • autosomal recessive IRF8 deficiency,
  • IMD32B,
  • immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive,
  • OMIM:226990,
  • 226990,
  • UMLS_CUI:C4016741
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