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DO Term : immunodeficiency 21 [DOID:0111947] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.
  • synonyms:
  • GARD:10934,
  • dendritic cell, monocyte, B and NK lymphoid deficiency,
  • MESH:D000077428,
  • ORDO:228423,
  • GATA2 deficiency,
  • monocytopenia with susceptibility to infections,
  • monocyte-B-natural killer-dendritic cell deficiency syndrome,
  • MonoMAC,
  • IMD21,
  • combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections,
  • monocytopenia and mycobacterial infection syndrome,
  • OMIM:614172,
  • 614172,
  • DCML,
  • NCI:C126349
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