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Summary Literature (0)
DOID:0111947 - immunodeficiency 21

Disease Ontology Definition: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: DCML, GATA2 deficiency, IMD21, MonoMAC, combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections, dendritic cell, monocyte, B and NK lymphoid deficiency, monocyte-B-natural killer-dendritic cell deficiency syndrome, monocytopenia and mycobacterial infection syndrome, monocytopenia with susceptibility to infections,

Xenbase Genes : gata2



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)