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.

• Klíčová slova
• CYBA, CYBB, Chronic granulomatous disease, Flow cytometry, NCF1, NCF2,
• MeSH
• biologické markery MeSH
• chronická granulomatózní nemoc diagnóza   genetika   imunologie   metabolismus   MeSH
• dítě MeSH
• genotyp MeSH
• imunofenotypizace MeSH
• kojenec MeSH
• lidé MeSH
• mutace MeSH
• NADP metabolismus   MeSH
• NADPH-oxidasy metabolismus   MeSH
• neutrofily imunologie   metabolismus   MeSH
• předškolní dítě MeSH
• průtoková cytometrie MeSH
• rizikové faktory MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Egypt MeSH
• Názvy látek
• biologické markery MeSH
• NADP MeSH
• NADPH-oxidasy MeSH

Hyper-immunoglobulin (Ig)E syndrome (HIES) is a primary immunodeficiency associated with mutations in STAT3 resulting in impaired development of T helper type 17 (Th17) lymphocytes. HIES patients with a reduced frequency of Th17 cells present with infections caused by Staphylococcus aureus and/or Candida strains. The same spectrum of pathogens is present in patients with chronic granulomatous disease (CGD).We analysed the characteristics of the Th17 compartment in HIES and CGD. HIES patients showed very low numbers of Th17 cells. By contrast, the frequency of Th17 cells and production of Th17-derived cytokines was significantly higher among CGD patients when compared to both control samples and HIES. Naive CD4(+) cells in CGD patients had a normal capacity to differentiate into IL-17-producing cells and the numbers of Th17 cells in the CGD patients normalized following successful bone marrow transplantation. Our findings complement recent data on the importance of Th17 cells for elimination of infections with C. albicans and S. aureus.

• MeSH
• buněčná diferenciace imunologie   MeSH
• buňky Th17 imunologie   metabolismus   patologie   MeSH
• Candida albicans růst a vývoj   MeSH
• chronická granulomatózní nemoc genetika   imunologie   metabolismus   patologie   terapie   MeSH
• dítě MeSH
• dospělí MeSH
• ELISA MeSH
• homologní transplantace MeSH
• interferon gama imunologie   metabolismus   MeSH
• interleukin-17 imunologie   metabolismus   MeSH
• Jobův syndrom genetika   imunologie   metabolismus   patologie   MeSH
• kandidóza imunologie   mikrobiologie   MeSH
• lidé MeSH
• membránové glykoproteiny genetika   imunologie   metabolismus   MeSH
• mutace MeSH
• NADPH-oxidasa 2 MeSH
• NADPH-oxidasy genetika   imunologie   metabolismus   MeSH
• počet lymfocytů MeSH
• předškolní dítě MeSH
• průtoková cytometrie MeSH
• stafylokokové infekce imunologie   mikrobiologie   MeSH
• Staphylococcus aureus růst a vývoj   MeSH
• studie případů a kontrol MeSH
• transkripční faktor STAT3 genetika   imunologie   metabolismus   MeSH
• transplantace hematopoetických kmenových buněk MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• CYBB protein, human MeSH Prohlížeč
• interferon gama MeSH
• interleukin-17 MeSH
• membránové glykoproteiny MeSH
• NADPH-oxidasa 2 MeSH
• NADPH-oxidasy MeSH
• transkripční faktor STAT3 MeSH