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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2011
Schlagworte:
Clinical Trials and Observations
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge