Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Pachlopnik Schmid, Jana; Canioni, Danielle; Moshous, Despina; Touzot, Fabien; Mahlaoui, Nizar; Hauck, Fabian; Kanegane, Hirokazu; López‐Granados, Eduardo; Mejstříková, Ester; Pellier, Isabelle; Galicier, Lionel; Galambrun, Claire; Barlogis, Vincent; Bordigoni, Pierre; Fourmaintraux, A; Hamidou, M.; Dabadie, A.; Le Deist, Françoise; Haerynck, Filomeen; Marie, O; Rohrlich, Pierre‐Simon; Stephan, Jean‐Louis; Lenoir, Christelle; Rigaud, Stéphanie; Lambert, Nathalie; Milili, Michèle; Schiff, Claudin; Chapel, Helen; Pïcard, Capucine; de Saint Basile, Geneviève; Blanche, Stéphane; Fischer, Alain; Latour, Sylvain

doi:10.1182/blood-2010-07-298372

Public

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Published in Blood • Nov 30, 2010

Authors:

Jana Pachlopnik Schmid

Danielle Canioni

Despina Moshous

Abstract

X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A (also named SAP)...

Subject

Hemophagocytic lymphohistiocytosis

Hypogammaglobulinemia

Medicine

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