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Disease Ontology Browser
immunodeficiency 21 (DOID:0111947)
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Synonyms: combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; IMD21; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC
Alt IDs: OMIM:614172, MESH:D000077428, NCI:C126349, ORDO:228423
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory