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

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 expre...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Stepensky, Polina, Rensing-Ehl, Anne, Gather, Ruth, Revel-Vilk, Shoshana, Fischer, Ute, Nabhani, Schafiq, Beier, Fabian, Brümmendorf, Tim H., Fuchs, Sebastian, Zenke, Simon, Firat, Elke, Pessach, Vered Molho, Borkhardt, Arndt, Rakhmanov, Mirzokhid, Keller, Bärbel, Warnatz, Klaus, Eibel, Hermann, Niedermann, Gabriele, Elpeleg, Orly, Ehl, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Plenary Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4463807/
https://ncbi.nlm.nih.gov/pubmed/25414442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-08-593202
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