X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

@article{Booth2011XlinkedLD,
  title={X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.},
  author={Claire Booth and Kimberly C Gilmour and Paul A. Veys and Andrew R Gennery and Mary Anne Slatter and Helen Chapel and Paul Trafford Heath and Colin Graham Steward and O. Smith and Anna O'Meara and Hilary Kerrigan and Nizar Mahlaoui and Marina Cavazzana-Calvo and Alain Fischer and Despina Moshous and St{\'e}phane Blanche and Jana Pachlopnik Schmid and Sylvain Latour and Genevi{\`e}ve de Saint-Basile and Michael Albert and Gundula Notheis and Nikolaus Rieber and Brigitte Strahm and Henrike Ritterbusch and Arjan Lankester and Nico G. Hartwig and Isabelle Meyts and Alessandro Plebani and Annarosa Soresina and Andrea Finocchi and Claudio Pignata and E. N. M. Cirillo and Sonia Bonanomi and C Peters and Krzysztof Kalwak and Srdjan S Pasi{\'c} and Petr Sedl{\'a}cek and Janez Jazbec and Hirokazu Kanegane and Kim E Nichols and Imelda Celine Hanson and Neena Kapoor and Elie Haddad and Morton Cowan and Sharon Choo and Joanne Smart and Peter D Arkwright and Hubert Bobby Gaspar},
  journal={Blood},
  year={2011},
  volume={117 1},
  pages={53-62}
}
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 outcome. We describe a large cohort of 91 genetically defined XLP1 patients collected… CONTINUE READING

Citations

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