Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

Cytometry. Part B, Clinical Cytometry
Meina ZhaoToshio Miyawaki

Abstract

X-linked lymphoproliferative syndrome (XLP) is a rare immunodeficiency with extreme vulnerability to Epstein-Barr virus (EBV) infection. It presents with fatal infectious mononucleosis, lymphoproliferative disorder, or dysgammaglobulinemia. The majority of affected males have mutations in the SH2D1A/SLAM-associated protein (SAP) gene. We previously generated an antihuman SAP monoclonal antibody (KST-3) for a flow cytometric assay and described the activation of T cells to be necessary for the flow cytometric assessment of the SAP expression using an FITC-conjugated secondary antibody. Between 2005 and 2008, we recruited 23 male patients with suspected XLP, including mainly EBV-associated hemophagocytic lymphohistiocytosis (HLH), and attempted to evaluate SAP expression in fresh lymphoid cells using Alexa Fluor 488-conjugated secondary antibody instead of an FITC-conjugated one. The method demonstrated that SAP was intensely expressed in CD8(+) T cells and NK cells in normal fresh blood samples, thus suggesting the possible rapid identification of individuals with SAP deficiency. SH2D1A mutations were identified in six patients with SAP deficiency, but not in patients with normal SAP expression. The outcomes from this trial were...Continue Reading

References

Oct 1, 1995·Pediatric Research·T A SeemayerJ Sumegi
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Sep 24, 2004·Cytometry. Part a : the Journal of the International Society for Analytical Cytology·Jolene A BradfordJoseph M Beechem
Nov 3, 2006·Nature·Stéphanie RigaudSylvain Latour
Mar 17, 2009·Cytometry. Part B, Clinical Cytometry·Rebecca A MarshJack J Bleesing

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Citations

Sep 16, 2015·The Journal of Allergy and Clinical Immunology·Francisco A BonillaJames W Verbsky
Jun 8, 2012·Pediatrics International : Official Journal of the Japan Pediatric Society·Xi YangHirokazu Kanegane
Mar 22, 2012·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Hirokazu KaneganeToshio Miyawaki
Nov 22, 2018·Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology·Akihiro TamuraYoshiyuki Kosaka
Aug 10, 2019·Frontiers in Immunology·Samuel Cern Cher ChiangRebecca A Marsh
Oct 22, 2018·The Journal of Allergy and Clinical Immunology·Akihiro HoshinoHirokazu Kanegane

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