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Page 1
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: neven b. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
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. Among authors: neven b. 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. Among authors: neven b. Gastroenterology. 2010 Sep;139(3):770-8. doi: 10.1053/j.gastro.2010.06.006. Epub 2010 Jun 9. Gastroenterology. 2010. PMID: 20537998
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.
Magerus-Chatinet A, Stolzenberg MC, Lanzarotti N, Neven B, Daussy C, Picard C, Neveux N, Desai M, Rao M, Ghosh K, Madkaikar M, Fischer A, Rieux-Laucat F. Magerus-Chatinet A, et al. Among authors: neven b. J Allergy Clin Immunol. 2013 Feb;131(2):486-90. doi: 10.1016/j.jaci.2012.06.011. Epub 2012 Jul 31. J Allergy Clin Immunol. 2013. PMID: 22857792 Free PMC 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.
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
Aguilar C, Lenoir C, Lambert N, Bègue B, Brousse N, Canioni D, Berrebi D, Roy M, Gérart S, Chapel H, Schwerd T, Siproudhis L, Schäppi M, Al-Ahmari A, Mori M, Yamaide A, Galicier L, Neven B, Routes J, Uhlig HH, Koletzko S, Patel S, Kanegane H, Picard C, Fischer A, Bensussan NC, Ruemmele F, Hugot JP, Latour S. Aguilar C, et al. Among authors: neven b. J Allergy Clin Immunol. 2014 Nov;134(5):1131-41.e9. doi: 10.1016/j.jaci.2014.04.031. Epub 2014 Jun 15. J Allergy Clin Immunol. 2014. PMID: 24942515 Clinical Trial.
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K. Turvey SE, et al. Among authors: neven b. J Allergy Clin Immunol. 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. J Allergy Clin Immunol. 2014. PMID: 25087226 Free PMC article. Review.
Early-onset hypogammaglobulinemia: A survey of 44 patients.
Brignier AC, Mahlaoui N, Reimann C, Picard C, Kracker S, de Vergnes N, Rieux-Laucat F, Frange P, Suarez F, Neven B, Masseau A, Aladjidi N, Donadieu J, Corby A, Bienvenu B, Cony-Makhoul P, Fischer A, Cavazzana M, Durandy A. Brignier AC, et al. Among authors: neven b. J Allergy Clin Immunol. 2015 Oct;136(4):1097-9.e2. doi: 10.1016/j.jaci.2015.03.038. Epub 2015 May 8. J Allergy Clin Immunol. 2015. PMID: 25959671 No abstract available.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
319 results