Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

Huck, Kirsten; Feyen, Oliver; Niehues, Tim; Rüschendorf, Franz; Hübner, Norbert; Laws, Hans‐Jürgen; Telieps, Tanja; Knapp, Stefan; Wacker, Hans‐Heinrich; Meindl, Alfons; Jumaa, Hassan; Borkhardt, Arndt

doi:10.1172/jci37901

Public

Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

Published in Journal of Clinical Investigation • Mar 26, 2009

Authors:

Kirsten Huck

Oliver Feyen

Tim Niehues

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 ...

Subject

Mutation

Immunology

Biology

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