NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature

Medicine (Baltimore). 2016 Oct;95(40):e5081. doi: 10.1097/MD.0000000000005081.

Abstract

Background: Common variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B subunit 2 (NFKB2) gene. We present the first case of NFKB2 mutation in Asian population.

Methods and results: An 18-year-old Chinese female with adrenocorticotropic hormone (ACTH) deficiency was admitted due to adrenal crisis and pneumonia. She had a history of recurrent respiratory infections since childhood and ectodermal abnormalities were noted during physical examination. Immunologic tests revealed panhypogammaglobulinemia and deficient natural killer (NK)-cell function. DNA sequencing of NFKB2 identified a heterozygous nonsense mutation (c.2563 A>T, p.855: Lys>*) in the patient but not her parents.

Conclusion: Clinicians should be alert to comorbidities of adrenal insufficiency and ectodermal dysplasia in CVID patients as these might suggest a rare hereditary syndrome caused by NFKB2 mutation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adrenal Insufficiency
  • Adrenocorticotropic Hormone / deficiency*
  • Adrenocorticotropic Hormone / genetics
  • Adrenocorticotropic Hormone / metabolism
  • Common Variable Immunodeficiency / complications
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Endocrine System Diseases / complications
  • Endocrine System Diseases / genetics*
  • Endocrine System Diseases / metabolism
  • Female
  • Genetic Diseases, Inborn / complications
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism
  • Heterozygote
  • Humans
  • Hypoglycemia / complications
  • Hypoglycemia / genetics*
  • Hypoglycemia / metabolism
  • Mutation*
  • NF-kappa B p52 Subunit / genetics*
  • NF-kappa B p52 Subunit / metabolism

Substances

  • NF-kappa B p52 Subunit
  • NFKB2 protein, human
  • Adrenocorticotropic Hormone
  • DNA

Supplementary concepts

  • ACTH Deficiency, Isolated
  • Adrenocorticotropic hormone deficiency