ZFIN Human Disease: immunodeficiency 32B

OBO ID: DOID:0111985

Term Name:	immunodeficiency 32B		Search Ontology:
Synonyms:	autosomal recessive IRF8 deficiency IMD32B immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
Definition:	A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (2)
References:	OMIM:226990 UMLS_CUI:C4016741
Ontology:	Human Disease ( DOID:0111985 )

Relationships

is a type of:	autosomal recessive disease monocyte, dendritic cell, and NK cell deficiency autosomal recessive disease monocyte, dendritic cell, and NK cell deficiency Show first 5 Terms

OTHER immunodeficiency 32B PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IRF8	irf8	Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive	226990

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None