immunodeficiency 60

Summary

DOID:0111954 - immunodeficiency 60

Disease Ontology 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.

Synonyms: BACH2-related immunodeficiency and autoimmunity, BRIDA, IMD60

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:618394 - IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60

MIM:618394 - IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), combined T cell and B cell immunodeficiency (is_a)