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Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui LC, Berthelet J, Laurent A, Crickx E, Parlato M, Stolzenberg MC, Suarez F, Leverger G, Aladjidi N, Collardeau-Frachon S, Pietrement C, Malphettes M, Froissart A, Bole-Feysot C, Cagnard N, Rodrigues Lima F, Walzer T, Rieux-Laucat F, Belot A, Mathieu AL. Jeanpierre M, et al. Among authors: laurent a. J Exp Med. 2024 Sep 2;221(9):e20232337. doi: 10.1084/jem.20232337. Epub 2024 Jul 19. J Exp Med. 2024. PMID: 39028869
[Childhood-onset systemic lupus].
Laurent A, Belot A. Laurent A, et al. Rev Prat. 2023 Sep;73(7):775-781. Rev Prat. 2023. PMID: 37796271 French.
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.
Bardet J, Laverdure N, Fusaro M, Picard C, Garnier L, Viel S, Collardeau-Frachon S, Guillebon JM, Durieu I, Casari-Thery C, Mortamet G, Laurent A, Belot A. Bardet J, et al. Among authors: laurent a. J Clin Med. 2021 Sep 24;10(19):4369. doi: 10.3390/jcm10194369. J Clin Med. 2021. PMID: 34640385 Free PMC article.
Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.
Jamilloux Y, Lefeuvre L, Magnotti F, Martin A, Benezech S, Allatif O, Penel-Page M, Hentgen V, Sève P, Gerfaud-Valentin M, Duquesne A, Desjonquères M, Laurent A, Rémy-Piccolo V, Cimaz R, Cantarini L, Bourdonnay E, Walzer T, Py BF, Belot A, Henry T. Jamilloux Y, et al. Among authors: laurent a. Rheumatology (Oxford). 2018 Jan 1;57(1):100-111. doi: 10.1093/rheumatology/kex373. Rheumatology (Oxford). 2018. PMID: 29040788
Occurrence of Lupus-Like Nephritis in a Girl With NLRC4 Gain-of-Function Mutations.
Zekre F, Laurent A, Ranchin B, Foray AP, Thilloy M, Laverdure N, Picard C, Belot A. Zekre F, et al. Among authors: laurent a. Kidney Int Rep. 2024 Feb 2;9(4):1136-1138. doi: 10.1016/j.ekir.2024.01.061. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765589 Free PMC article. No abstract available.
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients.
Magnotti F, Lefeuvre L, Benezech S, Malsot T, Waeckel L, Martin A, Kerever S, Chirita D, Desjonqueres M, Duquesne A, Gerfaud-Valentin M, Laurent A, Sève P, Popoff MR, Walzer T, Belot A, Jamilloux Y, Henry T. Magnotti F, et al. Among authors: laurent a. EMBO Mol Med. 2019 Nov 7;11(11):e10547. doi: 10.15252/emmm.201910547. Epub 2019 Oct 7. EMBO Mol Med. 2019. PMID: 31589380 Free PMC article.
Extra-osseous manifestations in chronic recurrent multifocal osteomyelitis: a retrospective study.
Robert M, Giolito A, Reumaux H, Rossi-Semerano L, Guillemin C, Biarrotte L, Leguevaques D, Belot A, Duquesne A, Frachette C, Laurent A, Desjonquères M, Larbre JP, Galeotti C, Koné-Paut I, Dusser P. Robert M, et al. Among authors: laurent a. Rheumatology (Oxford). 2024 Sep 1;63(SI2):SI233-SI239. doi: 10.1093/rheumatology/kead473. Rheumatology (Oxford). 2024. PMID: 37698983
Methotrexate does not affect lung function in children with juvenile idiopathic arthritis.
Perrin T, Coutier L, Ranchoup J, Rifard A, Eymery M, Ohlmann C, Werck-Gallois MC, Laurent A, Desjonquères M, Duquesne A, Belot A, Reix P. Perrin T, et al. Among authors: laurent a. Pediatr Pulmonol. 2023 Dec;58(12):3630-3636. doi: 10.1002/ppul.26681. Epub 2023 Sep 13. Pediatr Pulmonol. 2023. PMID: 37701972 No abstract available.
896 results