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Dokumenttyp:
journal article 
Autor(en):
Huck, K; Feyen, O; Niehues, T; Rüschendorf, F; Hübner, N; Laws, HJ; Telieps, T; Knapp, S; Wacker, HH; Meindl, A; Jumaa, H; Borkhardt, A 
Titel:
Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 
Abstract:
The fatal immune dysregulation that sometimes follows EBV infection in boys has been linked to mutations in two X chromosome-encoded genes, SLAM-associated protein (SAP) and X-linked inhibitor of apoptosis (XIAP). In this study we describe 2 girls from a consanguineous Turkish family who died after developing severe immune dysregulation and therapy-resistant EBV-positive B cell proliferation following EBV infection. SNP array-based genome-wide linkage analysis revealed IL-2-inducible T cell kina...    »
 
Zeitschriftentitel:
J Clin Invest 
Jahr:
2009 
Band / Volume:
119 
Heft / Issue:
Seitenangaben Beitrag:
1350-8 
Sprache:
eng 
Print-ISSN:
0021-9738 
TUM Einrichtung:
Frauenklinik und Poliklinik