A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease

Ann Allergy Asthma Immunol. 2010 Aug;105(2):183-5. doi: 10.1016/j.anai.2010.05.013. Epub 2010 Jul 3.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter

MeSH terms

  • Child
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 16*
  • DNA Mutational Analysis
  • Female
  • Genes, Recessive
  • Granulomatous Disease, Chronic / diagnosis*
  • Granulomatous Disease, Chronic / genetics*
  • Granulomatous Disease, Chronic / immunology
  • Granulomatous Disease, Chronic / physiopathology
  • Heterozygote
  • Humans
  • Mutation / genetics
  • NADPH Oxidases / genetics*
  • Pedigree
  • Reproducibility of Results
  • Rhodamines
  • Sensitivity and Specificity

Substances

  • Rhodamines
  • dihydrorhodamine 123
  • NADPH Oxidases
  • CYBA protein, human