A mutation in X-linked inhibitor of apoptosis (G466X) leads to memory inflation of Epstein-Barr virus-specific T cells.

@article{LpezGranados2014AMI,
  title={A mutation in X-linked inhibitor of apoptosis (G466X) leads to memory inflation of Epstein-Barr virus-specific T cells.},
  author={Eduardo L{\'o}pez-Granados and M. Stacey and A-K Kienzler and Sophie Sierro and Christian B Willberg and Christopher P. Fox and St{\'e}phanie Rigaud and Heather M. Long and Andrew D Hislop and Alan B. Rickinson and Suraag Patel and Sylvain Latour and Paul Klenerman and Helen Chapel},
  journal={Clinical and experimental immunology},
  year={2014},
  volume={178 3},
  pages={470-82}
}
Mutations in the X-linked inhibitor of apoptosis (XIAP) gene have been associated with XLP-like disease, including recurrent Epstein-Barr virus (EBV)-related haemophagocytic lymphohystiocytosis (HLH), but the immunopathogenic bases of EBV-related disease in XIAP deficiency is unknown. We present the first analysis of EBV-specific T cell responses in functional XIAP deficiency. In a family of patients with a novel mutation in XIAP (G466X) leading to a late-truncated protein and varying clinical… CONTINUE READING
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