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Page 1
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F. Hadjadj J, et al. Among authors: rouvet i. Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4. Nat Commun. 2020. PMID: 33087723 Free PMC article.
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. Mathieu AL, et al. Among authors: rouvet i. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 Free PMC article.
DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity.
Sun X, Liu T, Zhao J, Xia H, Xie J, Guo Y, Zhong L, Li M, Yang Q, Peng C, Rouvet I, Belot A, Shu HB, Feng P, Zhang J. Sun X, et al. Among authors: rouvet i. Nat Commun. 2020 Dec 3;11(1):6182. doi: 10.1038/s41467-020-19941-0. Nat Commun. 2020. PMID: 33273464 Free PMC article.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Tusseau M, Lovšin E, Samaille C, Pescarmona R, Mathieu AL, Maggio MC, Selmanović V, Debeljak M, Dachy A, Novljan G, Janin A, Januel L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI, Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow YJ, Avčin T, Cimaz R, Belot A. Tusseau M, et al. Among authors: rouvet i. J Clin Immunol. 2022 Aug;42(6):1310-1320. doi: 10.1007/s10875-022-01287-5. Epub 2022 Jun 7. J Clin Immunol. 2022. PMID: 35670985
Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.
Weill O, Decramer S, Malcus C, Kassai B, Rouvet I, Ginhoux T, Crow YJ, Rieux-Laucat F, Soulas-Sprauel P, Pagnier A, Koné-Paut I, Piram M, Galeotti C, Samaille C, Reumaux H, Lanteri A, Dubois SM, Lefebvre H, Burtey S, Maurier F, Carbasse A, Lemelle I, Meinzer U, Despert V, Flodrops H, Fabien N, Ranchin B, Hachulla E, Bader-Meunier B, Belot A. Weill O, et al. Among authors: rouvet i. Joint Bone Spine. 2017 Oct;84(5):589-593. doi: 10.1016/j.jbspin.2016.12.008. Epub 2016 Dec 28. Joint Bone Spine. 2017. PMID: 28039062
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.
Moreews M, Le Gouge K, Khaldi-Plassart S, Pescarmona R, Mathieu AL, Malcus C, Djebali S, Bellomo A, Dauwalder O, Perret M, Villard M, Chopin E, Rouvet I, Vandenesh F, Dupieux C, Pouyau R, Teyssedre S, Guerder M, Louazon T, Moulin-Zinsch A, Duperril M, Patural H, Giovannini-Chami L, Portefaix A, Kassai B, Venet F, Monneret G, Lombard C, Flodrops H, De Guillebon JM, Bajolle F, Launay V, Bastard P, Zhang SY, Dubois V, Thaunat O, Richard JC, Mezidi M, Allatif O, Saker K, Dreux M, Abel L, Casanova JL, Marvel J, Trouillet-Assant S, Klatzmann D, Walzer T, Mariotti-Ferrandiz E, Javouhey E, Belot A. Moreews M, et al. Among authors: rouvet i. Sci Immunol. 2021 May 25;6(59):eabh1516. doi: 10.1126/sciimmunol.abh1516. Sci Immunol. 2021. PMID: 34035116 Free PMC article.
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, Szynkiewicz M, Zabot MT, Rouvet I, Bhaskar SS, Daly SB, Dickerson JE, Mayer J, O'Sullivan J, Juillard L, Urquhart JE, Fawdar S, Marusiak AA, Stephenson N, Waszkowycz B, W Beresford M, Biesecker LG, C M Black G, René C, Eliaou JF, Fabien N, Ranchin B, Cochat P, Gaffney PM, Rozenberg F, Lebon P, Malcus C, Crow YJ, Brognard J, Bonnefoy N. Belot A, et al. Among authors: rouvet i. Arthritis Rheum. 2013 Aug;65(8):2161-71. doi: 10.1002/art.38008. Arthritis Rheum. 2013. PMID: 23666743 Free PMC article.
[Elaboration of a national biobank for the study of gestational trophoblastic diseases].
Bolze PA, Massardier J, Buénerd A, Thivolet Béjui F, Perrin C, Rouvet I, Sanlaville D, Mazé MC, Dufay N, Gaucherand P, Chêne G, Hajri T, Golfier F. Bolze PA, et al. Among authors: rouvet i. J Gynecol Obstet Biol Reprod (Paris). 2016 Jun;45(6):559-62. doi: 10.1016/j.jgyn.2015.07.006. Epub 2015 Aug 29. J Gynecol Obstet Biol Reprod (Paris). 2016. PMID: 26323857 French.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, Cordier MP, Capri Y, Khung-Savatovsky S, Sigaudy S, Salomon R, Antignac C, Gubler MC, Benmerah A, Terzi F, Attié-Bitach T, Jeanpierre C, Saunier S. Grampa V, et al. Among authors: rouvet i. PLoS Genet. 2016 Mar 11;12(3):e1005894. doi: 10.1371/journal.pgen.1005894. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 26967905 Free PMC article.
23 results