Published January 1, 2020 | Version v1
Journal article Open

Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort

  • 1. Marmara Univ, Fac Med, Dept Pediat, Istanbul, Turkey
  • 2. Istanbul Cerrahpasa Univ, Fac Med, Div Pediat Allergy Immunol, Istanbul, Turkey
  • 3. Cukurova Univ, Fac Med, Div Pediat Allergy Immunol, Adana, Turkey
  • 4. Erciyes Univ, ERNAM Nanotechnol Res & Applicat Ctr, Kayseri, Turkey
  • 5. Erciyes Univ, Genome & Stem Cell Ctr, Kayseri, Turkey
  • 6. Bezmialem Vakif Gureba Univ, Fac Med, Dept Genet, Istanbul, Turkey
  • 7. Erciyes Univ, Fac Med, Dept Immunol, Kayseri, Turkey

Description

BACKGROUND: Chronic granulomatous disease (CGD) is characterized by defective microbial killing due to mutations affecting subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Definitive genetic identification of disease subtypes may be delayed or not readily available.

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