Human genes for immunodeficiency 60
Immunodeficiency 60 [DOID:0111954]
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.
Synonyms: immunodeficiency 60, DOID:0111954, BACH2-related immunodeficiency and autoimmunity, BRIDA, IMD60 ...