NFKB2 Defects

  • Shancy P. Jacob
  • Julie E. Feusier
  • Karin ChenEmail author
Part of the Rare Diseases of the Immune System book series (RDIS)


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.


NFKB2 Adrenal insufficiency Hypogammaglobulinemia Autoimmunity Pituitary hormones 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Shancy P. Jacob
    • 1
  • Julie E. Feusier
    • 2
  • Karin Chen
    • 1
    Email author
  1. 1.Division of Allergy and Immunology, Department of PediatricsUniversity of Utah School of MedicineSalt Lake CityUSA
  2. 2.Department of Human GeneticsUniversity of Utah School of MedicineSalt Lake CityUSA

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