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| Term | immunodeficiency 60 | ID (Ontology) | DOID:0111954 (Human Disease) |
| 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. | ||
| Also Known As | "BACH2-related immunodeficiency and autoimmunity" ; "BRIDA" ; "IMD60" | ||
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autosomal genetic disease |__autosomal dominant disease___________________ combined immunodeficiency | |__combined T cell and B cell immunodeficiency__| immunodeficiency 60 |
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| Is a |
autosomal dominant disease combined T cell and B cell immunodeficiency |
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External Crossreferences & Linkouts
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MIM:618394 UMLS_CUI:C5193072 |
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