Term Name: | immunodeficiency 60 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111954] ( DOID:0111954 ) |