Abstract
Objectives:
In this study, we discuss CD40 and CD40L expression findings in hyperimmunoglobuline M (HIGM) syndrome suspected patients obtained by flow cytometry.
Patients and methods:
Between May 2009 and February 2014, CD40 analysis was performed in 12 male (range, 4 months to 20 years) and eight female patients (range, 2 months to 28 years) and CD40 ligand (CD40L) analysis in eight male patients (range, 11 months to 20 years). Peripheral blood mononuclear cell (PBMC) samples were stained with anti-CD19, -CD45, -CD20 and -CD40 monoclonal antibodies and CD19+CD40+ cells were detected in the flow cytometer. For the diagnosis of X-linked HIGM syndrome, isolated PBMCs were cultured in phorbol myristate acetate and ionomycin for four hours and then CD3+CD4+CD8-CD40L+ cells were analyzed by flow cytometry.
Results:
Compared to the healthy controls, low CD40 expression in one female patient (0.09%) and low CD40L expression in three male patients (0.03%, 2.7% and 4%, respectively) were observed.
Conclusion:
Although flow cytometry is a quick and reliable method in the diagnosis of HIGM syndrome, additional genetic testing is required to establish the definite diagnosis.
Keywords:
Autosomal recessive, CD40 ligand, CD40, flow cytometry, hyperimmunoglobulin M syndrome, X linked genetic diseaseVOLUME
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ISSUE
Correspondence
Received
Accepted
Published
Suggested Citation
DOI
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