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.