ZFIN Human Disease: immunodeficiency 60

OBO ID: DOID:0111954

Term Name:	immunodeficiency 60		Search Ontology:
Synonyms:	BACH2-related immunodeficiency and autoimmunity BRIDA IMD60
Definition:	A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. https://pubmed.ncbi.nlm.nih.gov/28530713/
References:	OMIM:618394 UMLS_CUI:C5193072
Ontology:	Human Disease ( DOID:0111954 )

Relationships

is a type of:	autosomal dominant disease combined T cell and B cell immunodeficiency autosomal dominant disease combined T cell and B cell immunodeficiency Show first 5 Terms

OTHER immunodeficiency 60 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BACH2	bach2a bach2b	Immunodeficiency 60 and autoimmunity	618394

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None