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Summary Literature (0)
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 :



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)