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


Baris H. E., ÖĞÜLÜR İ., Akcam B., KIYKIM A., Karagoz D., SARAYMEN B., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, vol.8, no.10, pp.3525-3535, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 10
  • Publication Date: 2020
  • Doi Number: 10.1016/j.jaip.2020.07.030
  • Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.3525-3535
  • Keywords: Chronic granulomatous disease, NADPH oxidase, flow cytometry, Dihydrorhodamine, gp91, p22, p47, p67, MUTATIONS, DIHYDRORHODAMINE, OXIDASE, ASSAY, FAMILIES, CARRIERS, TURKEY, BURST
  • Erciyes University Affiliated: Yes

Abstract

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.