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FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.
Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N, Arkwright PD, Bader-Meunier B, Barbot J, Blanche S, Casanova JL, Debré M, Ferster A, Fieschi C, Florkin B, Galambrun C, Hermine O, Lambotte O, Solary E, Thomas C, Le Deist F, Picard C, Fischer A, Rieux-Laucat F. Magerus-Chatinet A, et al. Blood. 2009 Mar 26;113(13):3027-30. doi: 10.1182/blood-2008-09-179630. Epub 2009 Jan 27. Blood. 2009. PMID: 19176318 Free article.
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.
Moes N, Rieux-Laucat F, Begue B, Verdier J, Neven B, Patey N, Torgerson TT, Picard C, Stolzenberg MC, Ruemmele C, Rings EH, Casanova JL, Piloquet H, Biver A, Breton A, Ochs HD, Hermine O, Fischer A, Goulet O, Cerf-Bensussan N, Ruemmele FM. Moes N, et al. Gastroenterology. 2010 Sep;139(3):770-8. doi: 10.1053/j.gastro.2010.06.006. Epub 2010 Jun 9. Gastroenterology. 2010. PMID: 20537998
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.
Neven B, Magerus-Chatinet A, Florkin B, Gobert D, Lambotte O, De Somer L, Lanzarotti N, Stolzenberg MC, Bader-Meunier B, Aladjidi N, Chantrain C, Bertrand Y, Jeziorski E, Leverger G, Michel G, Suarez F, Oksenhendler E, Hermine O, Blanche S, Picard C, Fischer A, Rieux-Laucat F. Neven B, et al. Blood. 2011 Nov 3;118(18):4798-807. doi: 10.1182/blood-2011-04-347641. Epub 2011 Sep 1. Blood. 2011. PMID: 21885602 Free article.
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
Neven B, Mamessier E, Bruneau J, Kaltenbach S, Kotlarz D, Suarez F, Masliah-Planchon J, Billot K, Canioni D, Frange P, Radford-Weiss I, Asnafi V, Murugan D, Bole C, Nitschke P, Goulet O, Casanova JL, Blanche S, Picard C, Hermine O, Rieux-Laucat F, Brousse N, Davi F, Baud V, Klein C, Nadel B, Ruemmele F, Fischer A. Neven B, et al. Blood. 2013 Nov 28;122(23):3713-22. doi: 10.1182/blood-2013-06-508267. Epub 2013 Oct 2. Blood. 2013. PMID: 24089328 Free article.
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avčin SL, Callebaut I, Bras M, Parisot M, Jazbec J, Homan M, Ihan A, Rieux-Laucat F, Stolzenberg MC, Ruemmele FM, Avčin T, Cerf-Bensussan N; GENIUS Group. Charbit-Henrion F, et al. J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):378-384. doi: 10.1097/MPG.0000000000001262. J Pediatr Gastroenterol Nutr. 2017. PMID: 27253662
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ. Rodero MP, et al. Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3. Nat Commun. 2017. PMID: 29259162 Free PMC article.
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Charbit-Henrion F, Bègue B, Sierra A, Hanein S, Stolzenberg MC, Li Z, Pellegrini S, Garcelon N, Jeanpierre M, Neven B, Loge I, Picard C, Rosain J, Bustamante J, Le Lorc'h M, Pigneur B, Fernandes A; GENIUS Group; Rieux-Laucat F, Amil Dias J, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018. PLoS One. 2018. PMID: 30365510 Free PMC article.
206 results