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17 results

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Page 1
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.
Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D. Daruich A, et al. Among authors: de vergnes n. Prog Retin Eye Res. 2023 Jul;95:101133. doi: 10.1016/j.preteyeres.2022.101133. Epub 2022 Oct 22. Prog Retin Eye Res. 2023. PMID: 36280537 Free PMC article. Review.
Prevalence of primary immunodeficiencies in France is underestimated.
Mahlaoui N, Jais JP, Brosselin P, Mignot C, Beaurain B, Brito C, Costes L, Courteille V, De Vergnes N, Alcaïs A, Fischer A; CEREDIH Prevalence Study Collaborators. Mahlaoui N, et al. Among authors: de vergnes n. J Allergy Clin Immunol. 2017 Dec;140(6):1731-1733. doi: 10.1016/j.jaci.2017.06.020. Epub 2017 Jul 18. J Allergy Clin Immunol. 2017. PMID: 28732644 No abstract available.
Early-onset hypogammaglobulinemia: A survey of 44 patients.
Brignier AC, Mahlaoui N, Reimann C, Picard C, Kracker S, de Vergnes N, Rieux-Laucat F, Frange P, Suarez F, Neven B, Masseau A, Aladjidi N, Donadieu J, Corby A, Bienvenu B, Cony-Makhoul P, Fischer A, Cavazzana M, Durandy A. Brignier AC, et al. Among authors: de vergnes n. J Allergy Clin Immunol. 2015 Oct;136(4):1097-9.e2. doi: 10.1016/j.jaci.2015.03.038. Epub 2015 May 8. J Allergy Clin Immunol. 2015. PMID: 25959671 No abstract available.
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. Among authors: de vergnes n. 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
17 results