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Page 1
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D. El Chehadeh S, et al. Among authors: jaussaud r. Clin Genet. 2021 Aug;100(2):206-212. doi: 10.1111/cge.13972. Epub 2021 Apr 29. Clin Genet. 2021. PMID: 33890303
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency.
Chandesris MO, Azarine A, Ong KT, Taleb S, Boutouyrie P, Mousseaux E, Romain M, Bozec E, Laurent S, Boddaert N, Thumerelle C, Tillie-Leblond I, Hoarau C, Lebranchu Y, Aladjidi N, Tron F, Barlogis V, Body G, Munzer M, Jaussaud R, Suarez F, Clément O, Hermine O, Tedgui A, Lortholary O, Picard C, Mallat Z, Fischer A. Chandesris MO, et al. Among authors: jaussaud r. Circ Cardiovasc Genet. 2012 Feb 1;5(1):25-34. doi: 10.1161/CIRCGENETICS.111.961235. Epub 2011 Nov 14. Circ Cardiovasc Genet. 2012. PMID: 22084479
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J. Fontaine M, et al. Among authors: jaussaud r. Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12. Mol Genet Metab. 2018. PMID: 29478820
Efficiency of immunoglobulin G replacement therapy in common variable immunodeficiency: correlations with clinical phenotype and polymorphism of the neonatal Fc receptor.
Gouilleux-Gruart V, Chapel H, Chevret S, Lucas M, Malphettes M, Fieschi C, Patel S, Boutboul D, Marson MN, Gérard L, Lee M, Watier H, Oksenhendler E; DEFI study group. Gouilleux-Gruart V, et al. Clin Exp Immunol. 2013 Feb;171(2):186-94. doi: 10.1111/cei.12002. Clin Exp Immunol. 2013. PMID: 23286945 Free PMC article.
B-cell and T-cell phenotypes in CVID patients correlate with the clinical phenotype of the disease.
Mouillot G, Carmagnat M, Gérard L, Garnier JL, Fieschi C, Vince N, Karlin L, Viallard JF, Jaussaud R, Boileau J, Donadieu J, Gardembas M, Schleinitz N, Suarez F, Hachulla E, Delavigne K, Morisset M, Jacquot S, Just N, Galicier L, Charron D, Debré P, Oksenhendler E, Rabian C; DEFI Study Group. Mouillot G, et al. Among authors: jaussaud r. J Clin Immunol. 2010 Sep;30(5):746-55. doi: 10.1007/s10875-010-9424-3. Epub 2010 May 1. J Clin Immunol. 2010. PMID: 20437084
A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.
Coignard-Biehler H, Mahlaoui N, Pilmis B, Barlogis V, Brosselin P, De Vergnes N, Debré M, Malphettes M, Frange P, Catherinot E, Pellier I, Durieu I, Perlat A, Royer B, Le Quellec A, Jeziorski E, Fischer A, Lortholary O; CEREDIH French PID study group; Aaron L, Adoue D, Aguilar C, Aladjidi N, Alcais A, Amoura Z, Arlet P, Armari-Alla C, Bader-Meunier B, Bayart S, Bertrand Y, Bienvenu B, Blanche S, Bodet D, Bonnotte B, Borie R, Boutard P, Briandet C, Brion JP, Brouard J, Cohen-Beaussant S, Costes L, Couderc LJ, Cougoul P, Courteille V, de Saint Basile G, Devoldere C, Deville A, Donadieu J, Dore E, Dulieu F, Edan C, Entz-Werle N, Fieschi C, Forestier A, Fouyssac F, Gajdos V, Galicier L, Gandemer V, Gardembas M, Gaud C, Guillerm G, Hachulla E, Hamidou M, Hermine O, Hoarau C, Humbert S, Jaccard A, Jacquot S, Jais JP, Jaussaud R, Jeandel PY, Kebaili K, Korganow AS, Lambotte O, Lanternier F, Larroche C, Lascaux AS, Le Moigne E, Le Moing V, Lebranchu Y, Lecuit M, Lefevre G, Lemal R, Te VLT, Marie-Cardine A, Silva NM, Masseau A, Massot C, Mazingue F, Merlin E, Michel G, Millot F, Monlibert B, Monpoux F, Moshous D, Mouthon L, Munzer M, Neven B, Nove-Josserand R, Oksenhendler E, Ouaché… See abstract for full author list ➔ Coignard-Biehler H, et al. Among authors: jaussaud r. J Clin Immunol. 2019 Oct;39(7):702-712. doi: 10.1007/s10875-019-00658-9. Epub 2019 Aug 10. J Clin Immunol. 2019. PMID: 31401750
Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.
Quentien MH, Delemer B, Papadimitriou DT, Souchon PF, Jaussaud R, Pagnier A, Munzer M, Jullien N, Reynaud R, Galon-Faure N, Enjalbert A, Barlier A, Brue T. Quentien MH, et al. Among authors: jaussaud r. J Clin Endocrinol Metab. 2012 Jan;97(1):E121-8. doi: 10.1210/jc.2011-0407. Epub 2011 Oct 19. J Clin Endocrinol Metab. 2012. PMID: 22013103
An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years.
Alligon M, Mahlaoui N, Courteille V, Costes L, Afonso V, Randrianomenjanahary P, de Vergnes N, Ranohavimparany A, Vo D, Hafsa I, Bach P, Benoit V, Garcelon N, Fischer A; members of the CEREDIH French PID study group. Alligon M, et al. J Allergy Clin Immunol. 2022 Jun;149(6):2116-2125. doi: 10.1016/j.jaci.2021.12.790. Epub 2022 Jan 12. J Allergy Clin Immunol. 2022. PMID: 35031273
149 results