Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.

@article{Stepensky2015EarlyonsetES,
  title={Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.},
  author={Polina Y Stepensky and Anne Rensing-Ehl and Ruth Gather and Shoshana Revel-Vilk and Ute M Fischer and Schafiq Nabhani and Fabian Beier and Tim H. Br{\"u}mmendorf and Sebastian Fuchs and Simon Zenke and Elke Firat and Vered Molho Pessach and Arndt Borkhardt and Mirzokhid Rakhmanov and Baerbel Keller and Klaus Warnatz and Hermann Eibel and Gabriele Niedermann and Orly Elpeleg and Stephan Ehl},
  journal={Blood},
  year={2015},
  volume={125 5},
  pages={753-61}
}
Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) abolishing protein expression. TPP2 is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve… CONTINUE READING
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