Article
Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report.
Molecular medicine reports - 1 May 2015
Liu Jinrong, Tian Wenjun, Wang Fang, Teng Wen, Zhang Yang, Tong Chunrong, Zhang Chonglin, Ju Ying, Zhang Bingchang, Zhao Shunying, Liu Hongxing
Abstract excerpt
X‑linked lymphoproliferative disease type 1 (XLP1) is a rare genetic immunodeficiency disease, which occurs due to germline mutations in the SH2D1A gene. This gene has been reported to encode the adaptor molecule signaling lymphocytic activation molecule‑associated protein XLP1 is generally triggered by the Epstein‑Barr virus (EBV) infection. The present study reported the case of a 4‑year‑old male who presented...
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