| Metadata | |
|---|---|
| ID | DOID:0111947 |
| Name | immunodeficiency 21 |
| 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. https://pubmed.ncbi.nlm.nih.gov/21242295/, https://pubmed.ncbi.nlm.nih.gov/21670465/, https://pubmed.ncbi.nlm.nih.gov/24227816/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections [EXACT] DCML [EXACT] dendritic cell, monocyte, B and NK lymphoid deficiency [EXACT] GATA2 deficiency [EXACT] IMD21 [EXACT] monocyte-B-natural killer-dendritic cell deficiency syndrome [EXACT] monocytopenia and mycobacterial infection syndrome [EXACT] monocytopenia with susceptibility to infections [EXACT] MonoMAC [EXACT] |
| Parent Relationships |