ZFIN Human Disease: immunodeficiency 32A

OBO ID: DOID:0111986

Term Name:	immunodeficiency 32A		Search Ontology:
Synonyms:	IMD32A immunodeficiency 32A, mycobacteriosis, autosomal dominant Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MSMD due to partial interferon regulatory factor 8 deficiency MSMD due to partial IRF8 deficiency
Definition:	A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/21524210/
References:	OMIM:614893 ORDO:319600 UMLS_CUI:C3808589
Ontology:	Human Disease ( DOID:0111986 )

Relationships

is a type of:	autosomal dominant disease dendritic cell deficiency autosomal dominant disease dendritic cell deficiency Show first 5 Terms

OTHER immunodeficiency 32A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IRF8	irf8	Immunodeficiency 32A, mycobacteriosis, autosomal dominant	614893

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None