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immunodeficiency 60
Summary
- Synonym
-
- BACH2-related immunodeficiency and autoimmunity
- BRIDA
- IMD60
- 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.
- Super Class
- autosomal dominant disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111954
- Mondo Disease Ontology
- UMLS
- OMIM
