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Metadata
ID DOID:0111954
Name immunodeficiency 60
Definition A combined T cell and B ell immunodeficiency characterized by dysregulation of both B and T cells, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in BACH2 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

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