NFKB2 Defects

Abstract

NF-κB2, encoded by the gene NFKB2, is the primary protein and transcription factor of the noncanonical NF-κB pathway. Human defects in NFKB2 result in primary immunodeficiency syndromes involving an autosomal dominant mode of inheritance. Loss-of-function mutations are more often associated with a common variable immunodeficiency phenotype, while gain-of-function mutations in NFKB2 have been associated with a combined immunodeficiency phenotype. Patients can also develop endocrinopathies including adrenal insufficiency, as well as autoimmune disease manifestations.