immunodeficiency 99

info · Genetic

A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11.

Signs and symptoms

Recurrent sinopulmonary infections
Vitiligo
Decreased circulating immunoglobulin concentration
Absent specific antibody response
Decreased class-switched memory B cell proportion
Follicular hyperplasia
Decreased total lymphocyte count
Lymphadenopathy
Decreased regulatory T cell proportion
Autoimmune thrombocytopenia

Also known as: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias