X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation

Ann Allergy Asthma Immunol. 2018 Mar;120(3):328-329. doi: 10.1016/j.anai.2017.12.006.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Frameshift Mutation
  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • NADPH Oxidase 2 / genetics*
  • X Chromosome Inactivation*

Substances

  • CYBB protein, human
  • NADPH Oxidase 2