Article
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Blood - 6 Jan 2011
Booth Claire, Gilmour Kimberly C, Veys Paul, Gennery Andrew R, Slatter Mary A, Chapel Helen, Heath Paul T, Steward Colin G, Smith Owen, O'Meara Anna, Kerrigan Hilary, Mahlaoui Nizar, Cavazzana-Calvo Marina, Fischer Alain, Moshous Despina, Blanche Stephane, Pachlopnik Schmid Jana, Pachlopnick-Schmid Jana, Latour Sylvain, de Saint-Basile Genevieve, Albert Michael, Notheis Gundula, Rieber Nikolaus, Strahm Brigitte, Ritterbusch Henrike, Lankester Arjan, Hartwig Nico G, Meyts Isabelle, Plebani Alessandro, Soresina Annarosa, Finocchi Andrea, Pignata Claudio, Cirillo Emilia, Bonanomi Sonia, Peters Christina, Kalwak Krzysztof, Pasic Srdjan, Sedlacek Petr, Jazbec Janez, Kanegane Hirokazu, Nichols Kim E, Hanson I Celine, Kapoor Neena, Haddad Elie, Cowan Morton, Choo Sharon, Smart Joanne, Arkwright Peter D, Gaspar Hubert B
Abstract excerpt
X-linked lymphoproliferative disease (XLP1) is a rare immunodeficiency characterized by severe immune dysregulation and caused by mutations in the SH2D1A/SAP gene. Clinical manifestations are varied and include hemophagocytic lymphohistiocytosis (HLH), lymphoma and dysgammaglobulinemia, often triggered by Epstein-Barr virus infection. Historical data published before improved treatment regimens shows very poor...
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