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Mucosal-associated invariant T cell-rich congenic mouse strain allows functional evaluation.
Cui Y, Franciszkiewicz K, Mburu YK, Mondot S, Le Bourhis L, Premel V, Martin E, Kachaner A, Duban L, Ingersoll MA, Rabot S, Jaubert J, De Villartay JP, Soudais C, Lantz O. Cui Y, et al. Among authors: de villartay jp. J Clin Invest. 2015 Nov 2;125(11):4171-85. doi: 10.1172/JCI82424. Epub 2015 Oct 12. J Clin Invest. 2015. PMID: 26524590 Free PMC article.
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. Okada S, et al. Among authors: de villartay jp. Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9. Science. 2015. PMID: 26160376 Free PMC article.
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: de villartay jp. 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.
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: de villartay jp. JCI Insight. 2020 Mar 12;5(5):e133880. doi: 10.1172/jci.insight.133880. JCI Insight. 2020. PMID: 32161190 Free PMC article.
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Pillay BA, Fusaro M, Gray PE, Statham AL, Burnett L, Bezrodnik L, Kane A, Tong W, Abdo C, Winter S, Chevalier S, Levy R, Masson C, Schmitt Y, Bole C, Malphettes M, Macintyre E, De Villartay JP, Ziegler JB, Smart JM, Peake J, Aghamohammadi A, Hammarström L, Abolhassani H, Picard C, Fischer A, Latour S, Neven B, Tangye SG, Ma CS. Pillay BA, et al. Among authors: de villartay jp. J Clin Invest. 2021 Feb 1;131(3):e142434. doi: 10.1172/JCI142434. J Clin Invest. 2021. PMID: 33290277 Free PMC article. Clinical Trial.
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP. Moshous D, et al. Among authors: de villartay jp. J Allergy Clin Immunol. 2013 Jun;131(6):1594-603. doi: 10.1016/j.jaci.2013.01.042. Epub 2013 Mar 21. J Allergy Clin Immunol. 2013. PMID: 23522482
165 results