Term Name: | immunodeficiency 21 |
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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 |
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. |
Ontology: | Human Disease [DOID:0111947] ( DOID:0111947 ) |