Role of Flow Cytometry in the Diagnosis of ChronicGranulomatous Disease: the Egyptian Experience
2016
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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