CLINICAL TRIALS AND OBSERVATIONS X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
نویسندگان
چکیده
Claire Booth,1 Kimberly C. Gilmour,1 Paul Veys,1 Andrew R. Gennery,2 Mary A. Slatter,2 Helen Chapel,3 Paul T. Heath,4 Colin G. Steward,5 Owen Smith,6 Anna O’Meara,6 Hilary Kerrigan,6 Nizar Mahlaoui,7 Marina Cavazzana-Calvo,7 Alain Fischer,7 Despina Moshous,7 Stephane Blanche,7 Jana Pachlopnik Schmid,7 Sylvain Latour,8 Genevieve de Saint-Basile,8 Michael Albert,9 Gundula Notheis,9 Nikolaus Rieber,9 Brigitte Strahm,10 Henrike Ritterbusch,11 Arjan Lankester,12 Nico G. Hartwig,13 Isabelle Meyts,14 Alessandro Plebani,15 Annarosa Soresina,15 Andrea Finocchi,16 Claudio Pignata,17 Emilia Cirillo,17 Sonia Bonanomi,18 Christina Peters,19 Krzysztof Kalwak,20 Srdjan Pasic,21 Petr Sedlacek,22 Janez Jazbec,23 Hirokazu Kanegane,24 Kim E. Nichols,25 I. Celine Hanson,26 Neena Kapoor,27 Elie Haddad,28 Morton Cowan,29 Sharon Choo,30 Joanne Smart,30 Peter D. Arkwright,31 and Hubert B. Gaspar1
منابع مشابه
CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome
X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by a defect in the SH2D1A gene. At least 3 major manifestations characterize its clinical presentation: fatal infectious mononucleosis (FIM), lymphomas, and immunoglobulin deficiencies. Common variable immunodeficiency (CVID) is a syndrome characterized by immunoglobulin deficiency leading to susceptibility to infec...
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