Article
[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 4 May 2017
Li W Y, Chen J S, Zhao Q, Dai R X, Wang Y P, Zhao H Y, Chen X M, Xue X H, Sun X Y, Tang X M, Zhang Y, Ding Y, Zhao X D, Zhang Z Y
Abstract excerpt
Objective: To investigate the clinical and immunological laboratory features, mutations in SH2D1A gene and SAP protein expression in four children of two families with X-linked lymphoproliferative disease type 1(XLP-1). Method: Four patients (Family A including Patient 1 and Patient 2, Family B including Patient 3 and Patient 4) and their maternal relatives were enrolled in this study. The clinical manifestation,...
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