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Disease Ontology Browser
immunodeficiency 60 (DOID:0111954)
Alliance: disease page
Synonyms: BACH2-related immunodeficiency and autoimmunity; BRIDA; IMD60
Alt IDs: OMIM:618394, UMLS_CUI:C5193072
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory