Conditions / Genetic
immunodeficiency 60
info · Genetic
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_materi
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.
Signs and symptoms
- Recurrent sinopulmonary infections
- Decreased total basophil count
- Decreased memory B cell proportion
- Decreased circulating IgA concentration
- Chronic diarrhea
- Decreased circulating IgM concentration
- Decreased circulating IgE concentration
- Bronchiectasis
- Decreased circulating IgG concentration
- Pulmonary infiltrates
Also known as: BACH2-related immunodeficiency and autoimmunity; BRIDA; IMD60