ZFIN Human Disease: immunodeficiency 21

OBO ID: DOID:0111947

Term Name:	immunodeficiency 21		Search Ontology:
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. (3)
References:	GARD:10934 MESH:D000077428 NCI:C126349 OMIM:614172 ORDO:228423
Ontology:	Human Disease ( DOID:0111947 )

Relationships

is a type of:	autosomal dominant disease primary immunodeficiency disease autosomal dominant disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 21 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GATA2	gata2b gata2a	Immunodeficiency 21	614172

ZEBRAFISH MODELS

Fish	Conditions	Citations
en.gata2a.i4^{uob101/uob101}	standard conditions	Dobrzycki et al., 2020

PHENOTYPE No data available

CITATIONS (1)