Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience
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 diminishe...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
El Hawary, Rabab [verfasserIn] Meshaal, Safa [verfasserIn] Deswarte, Caroline [verfasserIn] Galal, Nermeen [verfasserIn] Abdelkawy, Mahitab [verfasserIn] Alkady, Radwa [verfasserIn] Elaziz, Dalia Abd [verfasserIn] Freiberger, Tomas [verfasserIn] Ravcukova, Barbora [verfasserIn] Litzman, Jiri [verfasserIn] Bustamante, Jacinta [verfasserIn] Boutros, Jeannette [verfasserIn] Gaafar, Taghrid [verfasserIn] Elmarsafy, Aisha [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Journal of clinical immunology - Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981, 36(2016), 6 vom: 24. Mai, Seite 610-618 |
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| Übergeordnetes Werk: |
volume:36 ; year:2016 ; number:6 ; day:24 ; month:05 ; pages:610-618 |
| Links: |
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| DOI / URN: |
10.1007/s10875-016-0297-y |
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| Katalog-ID: |
SPR014245906 |
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| 245 | 1 | 0 | |a Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience |
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| 520 | |a 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. | ||
| 650 | 4 | |a Chronic granulomatous disease |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Flow cytometry |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a NCF1 |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a NCF2 |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a CYBA |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a CYBB |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Meshaal, Safa |e verfasserin |4 aut | |
| 700 | 1 | |a Deswarte, Caroline |e verfasserin |4 aut | |
| 700 | 1 | |a Galal, Nermeen |e verfasserin |4 aut | |
| 700 | 1 | |a Abdelkawy, Mahitab |e verfasserin |4 aut | |
| 700 | 1 | |a Alkady, Radwa |e verfasserin |4 aut | |
| 700 | 1 | |a Elaziz, Dalia Abd |e verfasserin |4 aut | |
| 700 | 1 | |a Freiberger, Tomas |e verfasserin |4 aut | |
| 700 | 1 | |a Ravcukova, Barbora |e verfasserin |4 aut | |
| 700 | 1 | |a Litzman, Jiri |e verfasserin |4 aut | |
| 700 | 1 | |a Bustamante, Jacinta |e verfasserin |4 aut | |
| 700 | 1 | |a Boutros, Jeannette |e verfasserin |4 aut | |
| 700 | 1 | |a Gaafar, Taghrid |e verfasserin |4 aut | |
| 700 | 1 | |a Elmarsafy, Aisha |e verfasserin |4 aut | |
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10.1007/s10875-016-0297-y doi (DE-627)SPR014245906 (SPR)s10875-016-0297-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.45 bkl El Hawary, Rabab verfasserin aut Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Chronic granulomatous disease (dpeaa)DE-He213 Flow cytometry (dpeaa)DE-He213 NCF1 (dpeaa)DE-He213 NCF2 (dpeaa)DE-He213 CYBA (dpeaa)DE-He213 CYBB (dpeaa)DE-He213 Meshaal, Safa verfasserin aut Deswarte, Caroline verfasserin aut Galal, Nermeen verfasserin aut Abdelkawy, Mahitab verfasserin aut Alkady, Radwa verfasserin aut Elaziz, Dalia Abd verfasserin aut Freiberger, Tomas verfasserin aut Ravcukova, Barbora verfasserin aut Litzman, Jiri verfasserin aut Bustamante, Jacinta verfasserin aut Boutros, Jeannette verfasserin aut Gaafar, Taghrid verfasserin aut Elmarsafy, Aisha verfasserin aut Enthalten in Journal of clinical immunology Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981 36(2016), 6 vom: 24. Mai, Seite 610-618 (DE-627)320573362 (DE-600)2016755-6 1573-2592 nnns volume:36 year:2016 number:6 day:24 month:05 pages:610-618 https://dx.doi.org/10.1007/s10875-016-0297-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.45 ASE AR 36 2016 6 24 05 610-618 |
| spelling |
10.1007/s10875-016-0297-y doi (DE-627)SPR014245906 (SPR)s10875-016-0297-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.45 bkl El Hawary, Rabab verfasserin aut Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Chronic granulomatous disease (dpeaa)DE-He213 Flow cytometry (dpeaa)DE-He213 NCF1 (dpeaa)DE-He213 NCF2 (dpeaa)DE-He213 CYBA (dpeaa)DE-He213 CYBB (dpeaa)DE-He213 Meshaal, Safa verfasserin aut Deswarte, Caroline verfasserin aut Galal, Nermeen verfasserin aut Abdelkawy, Mahitab verfasserin aut Alkady, Radwa verfasserin aut Elaziz, Dalia Abd verfasserin aut Freiberger, Tomas verfasserin aut Ravcukova, Barbora verfasserin aut Litzman, Jiri verfasserin aut Bustamante, Jacinta verfasserin aut Boutros, Jeannette verfasserin aut Gaafar, Taghrid verfasserin aut Elmarsafy, Aisha verfasserin aut Enthalten in Journal of clinical immunology Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981 36(2016), 6 vom: 24. Mai, Seite 610-618 (DE-627)320573362 (DE-600)2016755-6 1573-2592 nnns volume:36 year:2016 number:6 day:24 month:05 pages:610-618 https://dx.doi.org/10.1007/s10875-016-0297-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.45 ASE AR 36 2016 6 24 05 610-618 |
| allfields_unstemmed |
10.1007/s10875-016-0297-y doi (DE-627)SPR014245906 (SPR)s10875-016-0297-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.45 bkl El Hawary, Rabab verfasserin aut Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Chronic granulomatous disease (dpeaa)DE-He213 Flow cytometry (dpeaa)DE-He213 NCF1 (dpeaa)DE-He213 NCF2 (dpeaa)DE-He213 CYBA (dpeaa)DE-He213 CYBB (dpeaa)DE-He213 Meshaal, Safa verfasserin aut Deswarte, Caroline verfasserin aut Galal, Nermeen verfasserin aut Abdelkawy, Mahitab verfasserin aut Alkady, Radwa verfasserin aut Elaziz, Dalia Abd verfasserin aut Freiberger, Tomas verfasserin aut Ravcukova, Barbora verfasserin aut Litzman, Jiri verfasserin aut Bustamante, Jacinta verfasserin aut Boutros, Jeannette verfasserin aut Gaafar, Taghrid verfasserin aut Elmarsafy, Aisha verfasserin aut Enthalten in Journal of clinical immunology Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981 36(2016), 6 vom: 24. Mai, Seite 610-618 (DE-627)320573362 (DE-600)2016755-6 1573-2592 nnns volume:36 year:2016 number:6 day:24 month:05 pages:610-618 https://dx.doi.org/10.1007/s10875-016-0297-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.45 ASE AR 36 2016 6 24 05 610-618 |
| allfieldsGer |
10.1007/s10875-016-0297-y doi (DE-627)SPR014245906 (SPR)s10875-016-0297-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.45 bkl El Hawary, Rabab verfasserin aut Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Chronic granulomatous disease (dpeaa)DE-He213 Flow cytometry (dpeaa)DE-He213 NCF1 (dpeaa)DE-He213 NCF2 (dpeaa)DE-He213 CYBA (dpeaa)DE-He213 CYBB (dpeaa)DE-He213 Meshaal, Safa verfasserin aut Deswarte, Caroline verfasserin aut Galal, Nermeen verfasserin aut Abdelkawy, Mahitab verfasserin aut Alkady, Radwa verfasserin aut Elaziz, Dalia Abd verfasserin aut Freiberger, Tomas verfasserin aut Ravcukova, Barbora verfasserin aut Litzman, Jiri verfasserin aut Bustamante, Jacinta verfasserin aut Boutros, Jeannette verfasserin aut Gaafar, Taghrid verfasserin aut Elmarsafy, Aisha verfasserin aut Enthalten in Journal of clinical immunology Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981 36(2016), 6 vom: 24. Mai, Seite 610-618 (DE-627)320573362 (DE-600)2016755-6 1573-2592 nnns volume:36 year:2016 number:6 day:24 month:05 pages:610-618 https://dx.doi.org/10.1007/s10875-016-0297-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.45 ASE AR 36 2016 6 24 05 610-618 |
| allfieldsSound |
10.1007/s10875-016-0297-y doi (DE-627)SPR014245906 (SPR)s10875-016-0297-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.45 bkl El Hawary, Rabab verfasserin aut Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Chronic granulomatous disease (dpeaa)DE-He213 Flow cytometry (dpeaa)DE-He213 NCF1 (dpeaa)DE-He213 NCF2 (dpeaa)DE-He213 CYBA (dpeaa)DE-He213 CYBB (dpeaa)DE-He213 Meshaal, Safa verfasserin aut Deswarte, Caroline verfasserin aut Galal, Nermeen verfasserin aut Abdelkawy, Mahitab verfasserin aut Alkady, Radwa verfasserin aut Elaziz, Dalia Abd verfasserin aut Freiberger, Tomas verfasserin aut Ravcukova, Barbora verfasserin aut Litzman, Jiri verfasserin aut Bustamante, Jacinta verfasserin aut Boutros, Jeannette verfasserin aut Gaafar, Taghrid verfasserin aut Elmarsafy, Aisha verfasserin aut Enthalten in Journal of clinical immunology Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981 36(2016), 6 vom: 24. Mai, Seite 610-618 (DE-627)320573362 (DE-600)2016755-6 1573-2592 nnns volume:36 year:2016 number:6 day:24 month:05 pages:610-618 https://dx.doi.org/10.1007/s10875-016-0297-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.45 ASE AR 36 2016 6 24 05 610-618 |
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El Hawary, Rabab @@aut@@ Meshaal, Safa @@aut@@ Deswarte, Caroline @@aut@@ Galal, Nermeen @@aut@@ Abdelkawy, Mahitab @@aut@@ Alkady, Radwa @@aut@@ Elaziz, Dalia Abd @@aut@@ Freiberger, Tomas @@aut@@ Ravcukova, Barbora @@aut@@ Litzman, Jiri @@aut@@ Bustamante, Jacinta @@aut@@ Boutros, Jeannette @@aut@@ Gaafar, Taghrid @@aut@@ Elmarsafy, Aisha @@aut@@ |
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El Hawary, Rabab |
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El Hawary, Rabab ddc 610 bkl 44.45 misc Chronic granulomatous disease misc Flow cytometry misc NCF1 misc NCF2 misc CYBA misc CYBB Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience |
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610 ASE 44.45 bkl Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience Chronic granulomatous disease (dpeaa)DE-He213 Flow cytometry (dpeaa)DE-He213 NCF1 (dpeaa)DE-He213 NCF2 (dpeaa)DE-He213 CYBA (dpeaa)DE-He213 CYBB (dpeaa)DE-He213 |
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ddc 610 bkl 44.45 misc Chronic granulomatous disease misc Flow cytometry misc NCF1 misc NCF2 misc CYBA misc CYBB |
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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience |
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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience |
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El Hawary, Rabab |
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Journal of clinical immunology |
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El Hawary, Rabab Meshaal, Safa Deswarte, Caroline Galal, Nermeen Abdelkawy, Mahitab Alkady, Radwa Elaziz, Dalia Abd Freiberger, Tomas Ravcukova, Barbora Litzman, Jiri Bustamante, Jacinta Boutros, Jeannette Gaafar, Taghrid Elmarsafy, Aisha |
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role of flow cytometry in the diagnosis of chronic granulomatous disease: the egyptian experience |
| title_auth |
Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience |
| abstract |
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. |
| abstractGer |
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. |
| abstract_unstemmed |
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. |
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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience |
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Meshaal, Safa Deswarte, Caroline Galal, Nermeen Abdelkawy, Mahitab Alkady, Radwa Elaziz, Dalia Abd Freiberger, Tomas Ravcukova, Barbora Litzman, Jiri Bustamante, Jacinta Boutros, Jeannette Gaafar, Taghrid Elmarsafy, Aisha |
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2024-07-04T00:50:10.507Z |
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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 %). 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