Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives

OBJECTIVE: X-linked lymphoproliferative disease (XLP), a genetic disorder characterized by immunodeficiency to Epstein-Barr virus (EBV) infection, has been linked to mutations in the SH2D1A gene. XLP patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocyto...

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Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 6 vom: 13. Juni, Seite 416-20
1. Verfasser: Yang, Xi (VerfasserIn)
Weitere Verfasser: Wang, Jing, An, Yun-fei, Kanegane, Hirokazu, Miyawaki, Toshio, Zhao, Xiao-dong
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2011
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Carrier Proteins DNA, Viral Intracellular Signaling Peptides and Proteins SH2D1A protein, human Signaling Lymphocytic Activation Molecule Associated Protein