HAWARY, Rabab El, Safa MESHAAL, Caroline DESWARTE, Nermeen GALAL, Mahitab ABDELKAWY, Radwa ALKADY, Dalia Abd ELAZIZ, Tomáš FREIBERGER, Barbora RAVCUKOVA, Jiří LITZMAN, Jacinta BUSTAMANTE, Jeannette BOUTROS, Taghrid GAAFAR a Aisha ELMARSAFY. Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience. Journal of Clinical Immunology. New York: Springer, 2016, roč. 36, č. 6, s. 610-618. ISSN 0271-9142. doi:10.1007/s10875-016-0297-y.
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Základní údaje
Originální název Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience
Autoři HAWARY, Rabab El (818 Egypt), Safa MESHAAL (818 Egypt), Caroline DESWARTE (250 Francie), Nermeen GALAL (818 Egypt), Mahitab ABDELKAWY (818 Egypt), Radwa ALKADY (818 Egypt), Dalia Abd ELAZIZ (818 Egypt), Tomáš FREIBERGER (203 Česká republika, garant, domácí), Barbora RAVCUKOVA (203 Česká republika), Jiří LITZMAN (203 Česká republika, domácí), Jacinta BUSTAMANTE (250 Francie), Jeannette BOUTROS (818 Egypt), Taghrid GAAFAR (818 Egypt) a Aisha ELMARSAFY (818 Egypt).
Vydání Journal of Clinical Immunology, New York, Springer, 2016, 0271-9142.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor 30300 3.3 Health sciences
Stát vydavatele Spojené státy
Utajení není předmětem státního či obchodního tajemství
Impakt faktor Impact factor: 3.253
Kód RIV RIV/00216224:14110/16:00090419
Organizační jednotka Lékařská fakulta
Doi http://dx.doi.org/10.1007/s10875-016-0297-y
UT WoS 000379535800012
Klíčová slova anglicky Chronic granulomatous disease; Flowcytometry; NCF1; NCF2; CYBA; CYBB
Štítky EL OK
Příznaky Mezinárodní význam, Recenzováno
Změnil Změnila: Ing. Mgr. Věra Pospíšilíková, učo 9005. Změněno: 25. 8. 2016 12:54.
Introduction: Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) leading to inability of phagocytes to perform effective respiratory burst and thus diminished killing of bacteria and fungi. The identification of defective proteins aids in establishing a diagnosis prior to genetic analysis, which is rather labor-intensive, expensive, and time-consuming. Aim: The present study aims at assessing the NADPH proteins by performing the intracellular staining with specific monoclonal antibodies and their assessment on flow cytometry. The use of flow cytometry is less laborious and faster to perform than western blot. It also confirms the diagnosis of CGD and detects the affected components allowing proper management of patients. Materials and Methods: Twenty-eight patients from 25 different kindred, clinically suspected as CGD were recruited in Egypt. Dihydrorhodamine test was performed to confirm the diagnosis of the patients. Intracellular staining of NADPH components using specific monoclonal antibodies was performed followed by flow cytometric analysis. Results: The present study revealed that the most common defective protein in our cohort is p22-phox, found in 13 patients (46.4 % of cases) followed by p47-phox in 8 patients (28.6 %), gp91-phox in 5 patients (17.9 %), and finally p67-phox in 2 patients (7.1 %). Conclusion: 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.
VytisknoutZobrazeno: 23. 3. 2023 19:46