title: NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health Department of Internal Medicine Department of Pediatrics Department of Infectious Diseases Department of Dermatology, Peking Union Medical College Hospital, Beijing, P.R. China.
authors.forename: Chuan
authors.initials: C
authors.lastname: Shi
authors.forename: Fen
authors.initials: F
authors.lastname: Wang
authors.forename: Anli
authors.initials: A
authors.lastname: Tong
authors.forename: Xiao-Qian
authors.initials: XQ
authors.lastname: Zhang
authors.forename: Hong-Mei
authors.initials: HM
authors.lastname: Song
authors.forename: Zheng-Yin
authors.initials: ZY
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Lyu
authors.forename: Yue-Hua
authors.initials: YH
authors.lastname: Liu
authors.forename: Wei-Bo
authors.initials: WB
authors.lastname: Xia
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency; D000324:Adrenocorticotropic Hormone / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D017074:Common Variable Immunodeficiency / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004700:Endocrine System Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007003:Hypoglycemia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D052003:NF-kappa B p52 Subunit / Q000235:genetics* / Q000378:metabolism
chemical_list: D052003:NF-kappa B p52 Subunit; C498206:NFKB2 protein, human; D000324:Adrenocorticotropic Hormone; D004247:DNA