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Blood, 15 April 2005, Vol. 105, No. 8, pp. 3066-3071.
Prepublished online as a Blood First Edition Paper on January 4, 2005; DOI 10.1182/blood-2004-09-3651.
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Submitted September 20, 2004
Accepted December 29, 2004
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
Yasuhiro Tabata*, Joyce Villanueva, Susan Molleran Lee, Kejian Zhang, Hirokazu Kanegane, Toshio Miyawaki, Janos Sumegi, and Alexandra H Filipovich
Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan
* Corresponding author; email: Yasuhiro.Tabata{at}cchmc.org.
Mutations in the SH2D1A gene have been described in the majority of patients with the clinical syndrome of X-linked lymphoproliferative disease (XLP). The diagnosis of XLP is still difficult given its clinical heterogeneity, and the lack of a readily available rapid diagnostic laboratory test, particularly in cases without a family history of XLP. XLP should always be a consideration in males with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH). Four-color flow cytometric analysis was used to establish normal patterns of SH2D1A protein expression in lymphocyte subsets for normal subjects. Three of four patients with XLP confirmed by detection of mutations in the SH2D1A gene showed minimal intracellular SH2D1A protein in all cytotoxic cell types. The remaining patient showed lack of intracellular SH2D1A protein in CD56-positive NK and T lymphocytes as well as an abnormal bimodal pattern in CD8-positive T cells. Carriers of SH2D1A mutations had decreased SH2D1A protein staining patterns compared to normal controls. Eleven males with clinical syndromes consistent with XLP, predominantly EBV-HLH, had patterns of SH2D1A protein expression similar to those of normal controls. Four-color flow cytometry provides diagnostic information that may speed the identification of this fatal disease, differentiating it from other etiologies of EBV-HLH.
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