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Metadata
ID	DOID:0111954
Name	immunodeficiency 60
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/
Xrefs	OMIM:618394 UMLS_CUI:C5193072
Synonyms	BACH2-related immunodeficiency and autoimmunity [EXACT] BRIDA [EXACT] IMD60 [EXACT]
Parent Relationships	is_a combined T cell and B cell immunodeficiency is_a autosomal dominant disease