FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3045783363> ?p ?o ?g. }

• W3045783363 endingPage "3534.e1" @default.
• W3045783363 startingPage "3525" @default.
• W3045783363 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. Objective Sought to investigate the role of intracellular staining of NADPH oxidase enzyme subunits in predicting the respective genetic defects in patients with CGD and carriers. Methods Thirty-four patients with genetically inherited CGD, including 12 patients with X-linked CGD (gp91phagocyte oxidase (phox) deficiency due to cytochrome b-245, beta polypeptide [CYBB] mutations) and 22 patients with autosomal-recessive CGD (p22phox, p47phox, and p67phox deficiency due to cytochrome b-245, alpha polypeptide [CYBA], neutrophil cytosolic factor 1 [NCF1] and NCF2 mutations, respectively) were recruited from different immunology centers and followed up prospectively. Dihydrorhodamine testing and NADPH oxidase subunit expression in white blood cells were determined by flow cytometry. Results gp91phox and p22phox defects, which result in simultaneous loss of both proteins due to their complex formation, were differentiated only by comparative analysis of patients' and mothers' intracellular staining. p47phox and p67phox protein expression was almost undetectable in patients compared with carrier mothers and healthy controls. The expression values of the respective subunits were found to be significantly higher in all controls as compared with carrier mothers, which in turn were higher than those of patients. Conclusions Analysis of NADPH oxidase enzyme subunits by flow cytometry in patients and carriers is useful in the rapid prediction of the genetic defect of patients with CGD, thus guiding targeted sequencing and aiding in their early diagnosis. 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. Sought to investigate the role of intracellular staining of NADPH oxidase enzyme subunits in predicting the respective genetic defects in patients with CGD and carriers. Thirty-four patients with genetically inherited CGD, including 12 patients with X-linked CGD (gp91phagocyte oxidase (phox) deficiency due to cytochrome b-245, beta polypeptide [CYBB] mutations) and 22 patients with autosomal-recessive CGD (p22phox, p47phox, and p67phox deficiency due to cytochrome b-245, alpha polypeptide [CYBA], neutrophil cytosolic factor 1 [NCF1] and NCF2 mutations, respectively) were recruited from different immunology centers and followed up prospectively. Dihydrorhodamine testing and NADPH oxidase subunit expression in white blood cells were determined by flow cytometry. gp91phox and p22phox defects, which result in simultaneous loss of both proteins due to their complex formation, were differentiated only by comparative analysis of patients' and mothers' intracellular staining. p47phox and p67phox protein expression was almost undetectable in patients compared with carrier mothers and healthy controls. The expression values of the respective subunits were found to be significantly higher in all controls as compared with carrier mothers, which in turn were higher than those of patients. Analysis of NADPH oxidase enzyme subunits by flow cytometry in patients and carriers is useful in the rapid prediction of the genetic defect of patients with CGD, thus guiding targeted sequencing and aiding in their early diagnosis." @default.
• W3045783363 created "2020-08-03" @default.
• W3045783363 creator A5003300394 @default.
• W3045783363 creator A5012019419 @default.
• W3045783363 creator A5020946793 @default.
• W3045783363 creator A5028591438 @default.
• W3045783363 creator A5028857015 @default.
• W3045783363 creator A5030953316 @default.
• W3045783363 creator A5045209279 @default.
• W3045783363 creator A5047168250 @default.
• W3045783363 creator A5054018351 @default.
• W3045783363 creator A5054106259 @default.
• W3045783363 creator A5054766214 @default.
• W3045783363 creator A5056336734 @default.
• W3045783363 creator A5057851543 @default.
• W3045783363 creator A5064130809 @default.
• W3045783363 creator A5065390319 @default.
• W3045783363 creator A5069812962 @default.
• W3045783363 creator A5081754401 @default.
• W3045783363 creator A5082815899 @default.
• W3045783363 creator A5084683935 @default.
• W3045783363 creator A5089211872 @default.
• W3045783363 creator A5090750336 @default.
• W3045783363 date "2020-11-01" @default.
• W3045783363 modified "2023-10-18" @default.
• W3045783363 title "Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort" @default.
• W3045783363 cites W1567213819 @default.
• W3045783363 cites W1996535022 @default.
• W3045783363 cites W2008336850 @default.
• W3045783363 cites W2012044302 @default.
• W3045783363 cites W2023979316 @default.
• W3045783363 cites W2030064390 @default.
• W3045783363 cites W2032051703 @default.
• W3045783363 cites W2041966998 @default.
• W3045783363 cites W2060273459 @default.
• W3045783363 cites W2074267158 @default.
• W3045783363 cites W2075937326 @default.
• W3045783363 cites W2080978274 @default.
• W3045783363 cites W2083384723 @default.
• W3045783363 cites W2108499829 @default.
• W3045783363 cites W2139875980 @default.
• W3045783363 cites W2167488708 @default.
• W3045783363 cites W2281891893 @default.
• W3045783363 cites W2285223500 @default.
• W3045783363 cites W2401862332 @default.
• W3045783363 cites W2614661137 @default.
• W3045783363 cites W2624749160 @default.
• W3045783363 cites W2785553576 @default.
• W3045783363 cites W2808207128 @default.
• W3045783363 cites W2895806932 @default.
• W3045783363 cites W2897129064 @default.
• W3045783363 cites W2903054869 @default.
• W3045783363 cites W2952167883 @default.
• W3045783363 cites W2992269120 @default.
• W3045783363 cites W4310912077 @default.
• W3045783363 doi "https://doi.org/10.1016/j.jaip.2020.07.030" @default.
• W3045783363 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32736065" @default.
• W3045783363 hasPublicationYear "2020" @default.
• W3045783363 type Work @default.
• W3045783363 sameAs 3045783363 @default.
• W3045783363 citedByCount "7" @default.
• W3045783363 countsByYear W30457833632021 @default.
• W3045783363 countsByYear W30457833632022 @default.
• W3045783363 countsByYear W30457833632023 @default.
• W3045783363 crossrefType "journal-article" @default.
• W3045783363 hasAuthorship W3045783363A5003300394 @default.
• W3045783363 hasAuthorship W3045783363A5012019419 @default.
• W3045783363 hasAuthorship W3045783363A5020946793 @default.
• W3045783363 hasAuthorship W3045783363A5028591438 @default.
• W3045783363 hasAuthorship W3045783363A5028857015 @default.
• W3045783363 hasAuthorship W3045783363A5030953316 @default.
• W3045783363 hasAuthorship W3045783363A5045209279 @default.
• W3045783363 hasAuthorship W3045783363A5047168250 @default.
• W3045783363 hasAuthorship W3045783363A5054018351 @default.
• W3045783363 hasAuthorship W3045783363A5054106259 @default.
• W3045783363 hasAuthorship W3045783363A5054766214 @default.
• W3045783363 hasAuthorship W3045783363A5056336734 @default.
• W3045783363 hasAuthorship W3045783363A5057851543 @default.
• W3045783363 hasAuthorship W3045783363A5064130809 @default.
• W3045783363 hasAuthorship W3045783363A5065390319 @default.
• W3045783363 hasAuthorship W3045783363A5069812962 @default.
• W3045783363 hasAuthorship W3045783363A5081754401 @default.
• W3045783363 hasAuthorship W3045783363A5082815899 @default.
• W3045783363 hasAuthorship W3045783363A5084683935 @default.
• W3045783363 hasAuthorship W3045783363A5089211872 @default.
• W3045783363 hasAuthorship W3045783363A5090750336 @default.
• W3045783363 hasConcept C153911025 @default.
• W3045783363 hasConcept C181199279 @default.
• W3045783363 hasConcept C203014093 @default.
• W3045783363 hasConcept C2777989768 @default.
• W3045783363 hasConcept C2778175462 @default.
• W3045783363 hasConcept C2779719074 @default.
• W3045783363 hasConcept C2781308076 @default.
• W3045783363 hasConcept C38485361 @default.
• W3045783363 hasConcept C48349386 @default.
• W3045783363 hasConcept C54355233 @default.
• W3045783363 hasConcept C553184892 @default.
• W3045783363 hasConcept C55493867 @default.

• next