Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect

J Clin Immunol. 2019 Aug;39(6):611-615. doi: 10.1007/s10875-019-00661-0. Epub 2019 Jul 23.
No abstract available

Publication types

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

MeSH terms

  • Abnormal Karyotype
  • Biomarkers
  • DNA Mutational Analysis
  • Flow Cytometry
  • Genes, X-Linked
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Granulomatous Disease, Chronic / diagnosis*
  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • NADPH Oxidase 2 / genetics*
  • Pedigree
  • Phenotype
  • Tomography, X-Ray Computed

Substances

  • Biomarkers
  • CYBB protein, human
  • NADPH Oxidase 2