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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: picard c. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Nat Commun. 2015. PMID: 26216346 Free PMC article.
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL. Bernard F, et al. Among authors: picard c. Pediatrics. 2004 Jan;113(1 Pt 1):136-41. doi: 10.1542/peds.113.1.136. Pediatrics. 2004. PMID: 14702466
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G. Côte M, et al. Among authors: picard c. J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2. J Clin Invest. 2009. PMID: 19884660 Free PMC article.
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. Among authors: picard c. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 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: picard c. Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28. Nature. 2014. PMID: 24870241 Free PMC article.
1,075 results