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Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection.
Izawa K, Martin E, Soudais C, Bruneau J, Boutboul D, Rodriguez R, Lenoir C, Hislop AD, Besson C, Touzot F, Picard C, Callebaut I, de Villartay JP, Moshous D, Fischer A, Latour S. Izawa K, et al. Among authors: lenoir c. J Exp Med. 2017 Jan;214(1):73-89. doi: 10.1084/jem.20160784. Epub 2016 Dec 23. J Exp Med. 2017. PMID: 28011863 Free PMC article.
Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.
Rodriguez R, Fournier B, Cordeiro DJ, Winter S, Izawa K, Martin E, Boutboul D, Lenoir C, Fraitag S, Kracker S, Watts TH, Picard C, Bruneau J, Callebaut I, Fischer A, Neven B, Latour S. Rodriguez R, et al. Among authors: lenoir c. J Exp Med. 2019 Dec 2;216(12):2800-2818. doi: 10.1084/jem.20190678. Epub 2019 Sep 19. J Exp Med. 2019. PMID: 31537641 Free PMC article.
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: lenoir c. Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28. Nature. 2014. PMID: 24870241 Free PMC article.
A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.
Schaballie H, Rodriguez R, Martin E, Moens L, Frans G, Lenoir C, Dutré J, Canioni D, Bossuyt X, Fischer A, Latour S, Meyts I, Picard C. Schaballie H, et al. Among authors: lenoir c. J Allergy Clin Immunol. 2015 Sep;136(3):816-819.e4. doi: 10.1016/j.jaci.2015.03.009. Epub 2015 Apr 30. J Allergy Clin Immunol. 2015. PMID: 25935105 No abstract available.
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD. Boutboul D, et al. Among authors: lenoir c. J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11. J Clin Invest. 2018. PMID: 29889099 Free PMC article.
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA; Genomics England Research Consortium; Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: lenoir c. JCI Insight. 2020 Mar 12;5(5):e133880. doi: 10.1172/jci.insight.133880. JCI Insight. 2020. PMID: 32161190 Free PMC article.
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.
Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S. Fournier B, et al. Among authors: lenoir c. J Allergy Clin Immunol. 2021 Feb;147(2):740-743.e9. doi: 10.1016/j.jaci.2020.05.052. Epub 2020 Jun 17. J Allergy Clin Immunol. 2021. PMID: 32562707 No abstract available.
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
Hoshino A, Boutboul D, Zhang Y, Kuehn HS, Hadjadj J, Özdemir N, Celkan T, Walz C, Picard C, Lenoir C, Mahlaoui N, Klein C, Peng X, Azar A, Reigh E, Cheminant M, Fischer A, Rieux-Laucat F, Callebaut I, Hauck F, Milner J, Rosenzweig SD, Latour S. Hoshino A, et al. Among authors: lenoir c. Sci Immunol. 2022 Mar 25;7(69):eabi7160. doi: 10.1126/sciimmunol.abi7160. Epub 2022 Mar 25. Sci Immunol. 2022. PMID: 35333544
148 results