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

K, Huck; O, Feyen; T, Niehues; F, Rüschendorf; N, Hübner; HJ, Laws; T, Telieps; S, Knapp; HH, Wacker; A, Meindl; H, Jumaa; A, Borkhardt

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.

Shared by NobleBlocks on May 1, 2009 • 12:00 AM UTC

Authors:

Huck K

Feyen O

Niehues T

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 ...

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!