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NFKB2 Defects

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Humoral Primary Immunodeficiencies

Part of the book series: Rare Diseases of the Immune System ((RDIS))

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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Author information

Authors and Affiliations

  1. Division of Allergy and Immunology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Shancy P. Jacob & Karin Chen

  2. Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Julie E. Feusier

Authors
  1. Shancy P. Jacob
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  2. Julie E. Feusier
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  3. Karin Chen
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Correspondence to Karin Chen .

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Editors and Affiliations

  1. Careggi Hospital, Department of Clinical and Experimental Medicine, University of Florence, Firenze, Italy

    Mario Milco D'Elios

  2. University Medical Centre Freiburg, Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiency, Freiburg, Germany

    Marta Rizzi

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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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  • DOI: https://doi.org/10.1007/978-3-319-91785-6_13

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  • Publisher Name: Springer, Cham

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  • Online ISBN: 978-3-319-91785-6

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