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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. Rigaud S, et al. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257. Nature. 2006. PMID: 17080092
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 J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S. Pachlopnik Schmid J, et al. Among authors: rigaud s. Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30. Blood. 2011. PMID: 21119115 Free article.
Protein kinase C η is required for T cell activation and homeostatic proliferation.
Fu G, Hu J, Niederberger-Magnenat N, Rybakin V, Casas J, Yachi PP, Feldstein S, Ma B, Hoerter JA, Ampudia J, Rigaud S, Lambolez F, Gavin AL, Sauer K, Cheroutre H, Gascoigne NR. Fu G, et al. Among authors: rigaud s. Sci Signal. 2011 Dec 6;4(202):ra84. doi: 10.1126/scisignal.2002058. Sci Signal. 2011. PMID: 22155788 Free PMC article.
IP3 3-kinase B prevents bone marrow failure.
Rigaud S, Sauer K. Rigaud S, et al. Oncotarget. 2015 Jun 30;6(18):15706-7. doi: 10.18632/oncotarget.4480. Oncotarget. 2015. PMID: 26202960 Free PMC article. No abstract available.
53 results