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Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

BACKGROUND: Familial hemophagocytic lymphohistiocytosis is a genetic disorder of lymphocyte cytotoxicity that usually presents in the first two years of life and has a poor prognosis unless treated by hematopoietic stem cell transplantation. Atypical courses with later onset and prolonged survival h...

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Detalhes bibliográficos
Main Authors: Rohr, Jan, Beutel, Karin, Maul-Pavicic, Andrea, Vraetz, Thomas, Thiel, Jens, Warnatz, Klaus, Bondzio, Ilka, Gross-Wieltsch, Ute, Schündeln, Michael, Schütz, Barbara, Woessmann, Wilhelm, Groll, Andreas H., Strahm, Brigitte, Pagel, Julia, Speckmann, Carsten, Janka, Gritta, Griffiths, Gillian, Schwarz, Klaus, zur Stadt, Udo, Ehl, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2995566/
https://ncbi.nlm.nih.gov/pubmed/20823128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2010.029389
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