Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience

Hawary, Rabab El; Meshaal, Safa; Deswarte, Caroline; Galal, Nermeen; Abdelkawy, Mahitab; Alkady, Radwa; Elaziz, Dalia Abd; Freiberger, Tomáš; Ravčuková, Barbora; Litzman, Jiří; Bustamante, Jacinta; Boutros, Jeannette; Gaafar, Taghrid; Elmarsafy, Aisha

doi:10.1007/s10875-016-0297-y

Cited by 27 publications

(32 citation statements)

References 22 publications

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“…In addition to the role of oxidative burst evaluation by flow cytometry in the diagnosis of chronic granulomatous disease [42], this instrumentation has been used for many years to evaluate oxidative burst in many conditions, such as autoimmune neutropenia [43] and asymptomatic HIV+ individuals [44]. …”

Section: Measurement Of Reactive Species In Leukocytes and Platelementioning

confidence: 99%

Measurement and Clinical Significance of Biomarkers of Oxidative Stress in Humans

Marrocco

Altieri

Peluso

2017

Oxidative Medicine and Cellular Longevity

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Oxidative stress is the result of the imbalance between reactive oxygen species (ROS) formation and enzymatic and nonenzymatic antioxidants. Biomarkers of oxidative stress are relevant in the evaluation of the disease status and of the health-enhancing effects of antioxidants. We aim to discuss the major methodological bias of methods used for the evaluation of oxidative stress in humans. There is a lack of consensus concerning the validation, standardization, and reproducibility of methods for the measurement of the following: (1) ROS in leukocytes and platelets by flow cytometry, (2) markers based on ROS-induced modifications of lipids, DNA, and proteins, (3) enzymatic players of redox status, and (4) total antioxidant capacity of human body fluids. It has been suggested that the bias of each method could be overcome by using indexes of oxidative stress that include more than one marker. However, the choice of the markers considered in the global index should be dictated by the aim of the study and its design, as well as by the clinical relevance in the selected subjects. In conclusion, the clinical significance of biomarkers of oxidative stress in humans must come from a critical analysis of the markers that should give an overall index of redox status in particular conditions.

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Section: Measurement Of Reactive Species In Leukocytes and Platelementioning

confidence: 99%

Measurement and Clinical Significance of Biomarkers of Oxidative Stress in Humans

Marrocco

Altieri

Peluso

2017

Oxidative Medicine and Cellular Longevity

618

500

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“…have reported, X‐linked CGD is caused by a great variety of mutations, including deletions, splice site mutations and missense or nonsense mutations . Early diagnosis of CGD is vital for appropriate therapeutic care and improving prognosis . Hawary and colleagues have reported using flow cytometry with dihydrorhodamine 123 to analyze NADPH components in patients diagnosed as having CGD and their results have been confirmed by targeted Sanger sequencing .…”

Section: Discussionmentioning

confidence: 99%

Monoclonal antibody 7D5 recognizes the R147 epitope on the gp91^phox, phagocyte flavocytochrome b₅₅₈ large subunit

Kawai

Yamauchi

Kuribayashi

2018

Microbiology and Immunology

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Human phagocyte flavocytochrome b (Cyt b), the catalytic center of nicotinamide adenine dinucleotide phosphate oxidase, consists of a heavily glycosylated large subunit (gp91 ; Nox2) and a small subunit (p22 ). Cyt b is a membrane-spanning complex enzyme. Chronic granulomatous disease (CGD) is predominantly caused by a mutation in the CYBB gene encoding gp91 on the X-chromosome. Because the phagocytes of patients with CGD are not able to generate the superoxide anion, these patients are susceptible to severe infections that can be fatal. It has been suggested that the extracellular region of gp91 is necessary for and critical to forming the epitope of mAb 7D5 and that 7D5 provides a useful tool for rapid screening of X-linked CGD by FACS. To further elucidate the mAb 7D5 epitope on human gp91 , chimeric DNA expressed human and mouse gp91 recombinant protein were constructed. The fusion proteins were immunostained for mAb 7D5 and analyzed by FACS and western blot analysis. The ELGDRQNES region was found to reside at the extracellular surface on human gp91 and to be an important epitope for the interaction with mAb 7D5, as analyzed by FACS analysis. In particular, amino acid R147 is a unique epitope on the membrane-associated Cyt b for mAb 7D5. In conclusion, it is proposed that FACS analysis using mAb 7D5 is a valuable tool for early diagnosis of CGD.

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“…Three Mediterranean cohorts—from Egypt, Tunisia and Israel—have been published recently. The Egyptian cohort of 28 patients showed a predominance of AR-CGD (82%), mainly due to mutations in CYBA 15 . Whilst infection was the most common presentation, BCG complications were less common and inflammatory complications were reported in this paediatric cohort.…”

Section: Epidemiologymentioning

confidence: 99%

Recent advances in understanding and treating chronic granulomatous disease

Gennery

2017

F1000Res

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A number of recent advances have been made in the epidemiology and treatment of chronic granulomatous disease. Several reports from developing regions describe the presentations and progress of local populations, highlighting complications due to Bacillus Calmette–Guérin vaccination. A number of new reports describe complications of chronic granulomatous disease in adult patients, as more survivors reach adulthood. The complications experienced by X-linked carriers are particularly highlighted in three new reports, confirming that infection and inflammatory or autoimmune conditions are more common and severe than previously recognised. Finally, definitive treatment with haematopoietic stem cell transplantation and gene therapy is reviewed.

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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience

Abstract: In countries with limited resources and yet large number of CGD patients, the analysis of the defective proteins by flow cytometry is an optimum solution for confirming the diagnosis and is a step for targeted sequencing in families seeking prenatal diagnosis.

Cited by 27 publications

References 22 publications

Measurement and Clinical Significance of Biomarkers of Oxidative Stress in Humans

Measurement and Clinical Significance of Biomarkers of Oxidative Stress in Humans

Monoclonal antibody 7D5 recognizes the R147 epitope on the gp91^phox, phagocyte flavocytochrome b₅₅₈ large subunit

Recent advances in understanding and treating chronic granulomatous disease

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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience

Abstract: In countries with limited resources and yet large number of CGD patients, the analysis of the defective proteins by flow cytometry is an optimum solution for confirming the diagnosis and is a step for targeted sequencing in families seeking prenatal diagnosis.

Cited by 27 publications

References 22 publications

Measurement and Clinical Significance of Biomarkers of Oxidative Stress in Humans

Measurement and Clinical Significance of Biomarkers of Oxidative Stress in Humans

Monoclonal antibody 7D5 recognizes the R147 epitope on the gp91phox, phagocyte flavocytochrome b558 large subunit

Recent advances in understanding and treating chronic granulomatous disease

Contact Info

Product

Resources

About

Monoclonal antibody 7D5 recognizes the R147 epitope on the gp91^phox, phagocyte flavocytochrome b₅₅₈ large subunit