Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

Siobhan O Burns, Vincent Plagnol, Beatriz Morillo Gutierrez, Daifulah Al Zahrani, James Curtis, Miguel Gaspar, Amel Hassan, Alison M Jones, Marian Malone, Dyanne Rampling, Alex McLatchie, Rainer Doffinger, Kimberly C Gilmour, Frances Henriquez, Adrian J Thrasher, H Bobby Gaspar, Sergey Nejentsev

Research output: Contribution to journalArticleAcademicpeer-review

34 Citations (Scopus)
Original languageEnglish
Pages (from-to)215-8
Number of pages4
JournalJournal of allergy and clinical immunology
Issue number1
Publication statusPublished - Jul 2014
Externally publishedYes


  • Codon, Nonsense
  • Consanguinity
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Homozygote
  • Humans
  • I-kappa B Kinase/deficiency
  • Immunologic Deficiency Syndromes/complications
  • Infant
  • Mycobacterium Infections/complications

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