Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16

J Allergy Clin Immunol Pract. 2017 Jul-Aug;5(4):1146-1148. doi: 10.1016/j.jaip.2017.01.018. Epub 2017 Mar 21.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child of Impaired Parents*
  • Chromosomes, Human, Pair 16 / genetics*
  • Female
  • Genetic Counseling
  • Granulomatous Disease, Chronic / diagnosis*
  • Granulomatous Disease, Chronic / genetics
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Infant
  • Male
  • Mothers
  • Mutation / genetics*
  • NADPH Oxidases / genetics*
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Uniparental Disomy

Substances

  • NADPH Oxidases
  • CYBA protein, human