Article
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.
Blood - 15 Apr 2005
Tabata Yasuhiro, Villanueva Joyce, Lee Susan Molleran, Zhang Kejian, Kanegane Hirokazu, Miyawaki Toshio, Sumegi Janos, Filipovich Alexandra H
Abstract excerpt
Mutations in the SH2D1A gene have been described in most 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 patients without a family history of XLP. XLP should always be a consideration in males with Epstein-Barr...
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