Title: X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management, and outcome of the disease
Authors: 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
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 #
Issue Date: Jan-2011
Publisher: W.B. Saunders
Series Title: Blood vol:117 issue:1 pages:53-62
Abstract: X-linked lymphoproliferative disease (XLP1) is a rare immunodeficiency characterised by severe immune dysregulation and caused by mutations in the SH2D1A/SAP gene. Clinical manifestations are varied and include hemophagocytic lymphohistiocytosis (HLH), lymphoma and dysgammaglobulinaemia, often triggered by Epstein-Barr virus (EBV) infection. Historical data published prior to improved treatment regimens shows very poor outcome. We describe a large cohort of 91 genetically defined XLP1 patients collected from centers worldwide and report characteristics and outcome data for 43 patients receiving hematopoietic stem cell transplant (HSCT) and 48 untransplanted patients. The advent of better treatment strategies for HLH and malignancy has greatly reduced mortality for these patients but HLH still remains the most severe feature of XLP1. Survival following allogeneic HSCT is 81.4% with good immune reconstitution in the large majority of patients and little evidence of post-transplant lymphoproliferative disease. However, survival falls to 50% in patients with HLH as a feature of disease. Untransplanted patients have an overall survival of 62.5% with the majority on immunoglobulin replacement therapy but the outcome for those untransplanted after HLH is extremely poor (18.8%) HSCT should be undertaken in all patients with HLH since outcome without transplant is extremely poor. The outcome of HSCT for other manifestations of XLP1 is very good and if HSCT is not undertaken immediately patients must be monitored closely for evidence of disease progression.
ISSN: 0006-4971
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Pediatric Immunology
× corresponding author
# (joint) last author

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