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

doi:10.1182/blood-2010-07-298372

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Article

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

Blood - 3 Feb 2011

Pachlopnik Schmid Jana, Canioni Danielle, Moshous Despina, Touzot Fabien, Mahlaoui Nizar, Hauck Fabian, Kanegane Hirokazu, Lopez-Granados Eduardo, Mejstrikova Ester, Pellier Isabelle, Galicier Lionel, Galambrun Claire, Barlogis Vincent, Bordigoni Pierre, Fourmaintraux Alain, Hamidou Mohamed, Dabadie Alain, Le Deist Françoise, Haerynck Filomeen, Ouachée-Chardin Marie, Rohrlich Pierre, Stephan Jean-Louis, Lenoir Christelle, Rigaud Stéphanie, Lambert Nathalie, Milili Michèle, Schiff Claudin, Chapel Helen, Picard Capucine, de Saint Basile Geneviève, Blanche Stéphane, Fischer Alain, Latour Sylvain

Abstract excerpt

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), whereas mutations in the gene XIAP underlie XLP type 2 (XLP-2). Here, a comparison of the clinical phenotypes...

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PMID: 21119115
DOI: 10.1182/blood-2010-07-298372

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XIAP

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