Article
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Haematologica - 1 Dec 2010
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
Abstract excerpt
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 have been described, but no detailed analysis of immunological parameters associated with typical versus atypical...
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