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immunodeficiency 21
Summary
- Synonym
-
- 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
- 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.
- Super Class
- autosomal dominant disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111947
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- ORDO
- OMIM
- GARD
