Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease

J Allergy Clin Immunol Pract. 2018 Sep-Oct;6(5):1775-1777.e1. doi: 10.1016/j.jaip.2018.01.017. Epub 2018 Feb 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cells, Cultured
  • Female
  • Genes, X-Linked
  • Genetic Testing / methods*
  • Granulomatous Disease, Chronic / diagnosis*
  • Granulomatous Disease, Chronic / genetics
  • Hematopoiesis / genetics
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Mosaicism*
  • Mutation / genetics*
  • NADPH Oxidase 2 / genetics*
  • Neutrophil Activation / genetics
  • Pedigree
  • Phenotype

Substances

  • CYBB protein, human
  • NADPH Oxidase 2