Article
Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.
Human mutation - 1 May 2005
Erdõs Melinda, Uzvölgyi Eva, Nemes Zoltán, Török Olga, Rákóczi Eva, Went-Sümegi Nils, Sümegi János, Maródi László
Abstract excerpt
Males with an expressed mutation in the SH2D1A gene that encodes an SH2 domain protein named SH2D1A or SAP (NP_002342; signaling lymphocyte activating molecule [SLAM]-associated protein), have an X-linked syndrome characterized by an increased vulnerability to infection with Epstein-Barr virus (EBV). We evaluated two related male patients with fatal infectious mononucleosis (FIM) and mutation in the SH2D1A gene....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.