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

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Presentation transcript:

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)‏ by Jana Pachlopnik Schmid, Danielle Canioni, Despina Moshous, Fabien Touzot, Nizar Mahlaoui, Fabian Hauck, Hirokazu Kanegane, Eduardo Lopez-Granados, Ester Mejstrikova, Isabelle Pellier, Lionel Galicier, Claire Galambrun, Vincent Barlogis, Pierre Bordigoni, Alain Fourmaintraux, Mohamed Hamidou, Alain Dabadie, Françoise Le Deist, Filomeen Haerynck, Marie Ouachée-Chardin, Pierre Rohrlich, Jean-Louis Stephan, Christelle Lenoir, Stéphanie Rigaud, Nathalie Lambert, Michèle Milili, Claudin Schiff, Helen Chapel, Capucine Picard, Geneviève de Saint Basile, Stéphane Blanche, Alain Fischer, and Sylvain Latour Blood Volume 117(5):1522-1529 February 3, 2011 ©2011 by American Society of Hematology

Comparison of HLH phenotypes and survival curves of SAP-deficient (XLP-1) and XIAP-deficient (XLP-2) patients. Comparison of HLH phenotypes and survival curves of SAP-deficient (XLP-1) and XIAP-deficient (XLP-2) patients. Kaplan-Meier survival curves were constructed on the basis of data presented in Table 1 and Table 2. Statistical analyses with log-rank tests. (A) Percentage of XLP-1/SAP and XLP-2/XIAP patients without HLH phenotype (P = .099). (B) Overall survival curves for XLP-1/SAP and XLP-2/XIAP patients (P = .948). Jana Pachlopnik Schmid et al. Blood 2011;117:1522-1529 ©2011 by American Society of Hematology

Histology of the large bowel of PX1.7 with XIAP deficiency. Histology of the large bowel of PX1.7 with XIAP deficiency. (Top left) On hematoxylin and eosin at low magnification (×100), a large ulceration is seen, indicated by an arrow. (Bottom left) Higher magnification (×200) shows a massive polymorphic inflammatory infiltrate associated with a crypt abscess (indicated by the arrow). (Central right) Immunostaining with anti-CD3 shows frequent lymphoid T cells (on the right, ×200), some of them express the activation marker CD25 (×400, inset). Jana Pachlopnik Schmid et al. Blood 2011;117:1522-1529 ©2011 by American Society of Hematology