Term Name: immunodeficiency 60
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 )

Relationships
is a type of: autosomal dominant disease combined T cell and B cell immunodeficiency