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

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 trigge...

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Autors principals: 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, 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.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2011
Matèries:
Clinical Trials and Observations
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3374620/
https://ncbi.nlm.nih.gov/pubmed/20926771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-06-284935
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