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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Crusted scabies in children in France: a series of 20 cases.
Grodner C, Miquel J, Hadj-Rabia S, Mallet S, Boralevi F, Mazereeuw-Hautier J, Benzebouchi N, Dhers M, Goujon E, Bensaïd P, Mahé E. Grodner C, et al. Among authors: bensaid p. Eur J Pediatr. 2022 Mar;181(3):1167-1174. doi: 10.1007/s00431-021-04251-4. Epub 2021 Nov 15. Eur J Pediatr. 2022. PMID: 34782946
Correction to "Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance study".
Ouldali N, Bagheri H, Salvo F, Antona D, Pariente A, Leblanc C, Tebacher M, Micallef J, Levy C, Cohen R, Javouhey E, Bader-Meunier B, Ovaert C, Renolleau S, Hentgen V, Kone-Paut I, Deschamps N, De Pontual L, Iriart X, Guen CG, Angoulvant F, Belot A; French Covid-19 Paediatric Inflammation Consortium; French Pharmacovigilance network. Ouldali N, et al. Lancet Reg Health Eur. 2022 Oct;21:100468. doi: 10.1016/j.lanepe.2022.100468. Epub 2022 Aug 10. Lancet Reg Health Eur. 2022. PMID: 35967266 Free PMC article.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan; Baek J, Kang HG, Ha IS, Han KH, Yang EM; Korean Consortium of Hereditary Renal Diseases in Children; Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A; Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group); Dossier C, Deschênes G; NEPHROVIR; Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K. Jia X, et al. Kidney Int. 2020 Nov;98(5):1308-1322. doi: 10.1016/j.kint.2020.05.029. Epub 2020 Jun 14. Kidney Int. 2020. PMID: 32554042 Free PMC article.
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Bellanné-Chantelot C, et al. Among authors: bensaid p. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. Blood. 2018. PMID: 29914977 Free PMC article.
Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study.
Rotulo GA, Plat G, Beaupain B, Blanche S, Moushous D, Sicre de Fontbrune F, Leblanc T, Renard C, Barlogis V, Vigue MG, Freycon C, Piguet C, Pasquet M, Fieschi C, Abou-Chahla W, Gandemer V, Rialland F, Millot F, Marie-Cardine A, Paillard C, Levy P, Aladjidi N, Biosse-Duplan M, Bellanné-Chantelot C, Donadieu J; French Severe Chronic Neutropenia Registry. Rotulo GA, et al. Br J Haematol. 2021 Sep;194(5):908-920. doi: 10.1111/bjh.17695. Epub 2021 Aug 2. Br J Haematol. 2021. PMID: 34340247 Free article.
Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.
Ouldali N, Toubiana J, Antona D, Javouhey E, Madhi F, Lorrot M, Léger PL, Galeotti C, Claude C, Wiedemann A, Lachaume N, Ovaert C, Dumortier M, Kahn JE, Mandelcwajg A, Percheron L, Biot B, Bordet J, Girardin ML, Yang DD, Grimaud M, Oualha M, Allali S, Bajolle F, Beyler C, Meinzer U, Levy M, Paulet AM, Levy C, Cohen R, Belot A, Angoulvant F; French Covid-19 Paediatric Inflammation Consortium. Ouldali N, et al. JAMA. 2021 Mar 2;325(9):855-864. doi: 10.1001/jama.2021.0694. JAMA. 2021. PMID: 33523115 Free PMC article.
Epidemiology and Clinical Presentation of Children Hospitalized with SARS-CoV-2 Infection in Suburbs of Paris.
Gaborieau L, Delestrain C, Bensaid P, Vizeneux A, Blanc P, Garraffo A, Georget E, Chalvon A, Garrec N, Laoudi Y, Varon E, Rouget S, Pupin A, Abdel Aal K, Toulorge D, Ducrocq S, Barrey C, Pantalone L, Robert B, Joly-Sanchez L, Thach C, Masserot-Lureau C, Chahine J, Garcia-Roudaut VR, Rozental J, Nathanson S, Khaled M, Mandelcwajg A, Demayer N, Muller S, Mazerghane M, Epaud R, Pellegrino B, Madhi F. Gaborieau L, et al. Among authors: bensaid p. J Clin Med. 2020 Jul 14;9(7):2227. doi: 10.3390/jcm9072227. J Clin Med. 2020. PMID: 32674306 Free PMC article.
24 results