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.
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Jacob, S.P., Feusier, J.E., Chen, K. (2019). NFKB2 Defects. In: D'Elios, M., Rizzi, M. (eds) Humoral Primary Immunodeficiencies. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-319-91785-6_13
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