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

AuthorsSiobhan 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
JournalThe Journal of allergy and clinical immunology (J Allergy Clin Immunol) Vol. 134 Issue 1 Pg. 215-8 (Jul 2014) ISSN: 1097-6825 [Electronic] United States
PMID24679846 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Codon, Nonsense
  • I-kappa B Kinase
  • IKBKB protein, human
Topics
  • Codon, Nonsense
  • Consanguinity
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Homozygote
  • Humans
  • I-kappa B Kinase (deficiency, genetics, immunology)
  • Immunologic Deficiency Syndromes (complications, genetics, immunology, pathology)
  • Infant
  • Mycobacterium Infections (complications, genetics, immunology, pathology)

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