Human genes for immunodeficiency 21
Immunodeficiency 21 [DOID:0111947]
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: immunodeficiency 21, DOID:0111947, DCML, GATA2 deficiency, IMD21 ...