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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.
Epidemiology and management of malignancies in patients with inborn errors of immunity-An ESID registry study of 19,959 patients.
Bogaert DJA, Wolfsberger CH, Attarbaschi A, Gathmann J, Warnatz K, Mueller G, Mukhina A, Rusch S; ESID Registry Working Party; Kindle G, van Montfrans JM, Seidel MG. Bogaert DJA, et al. J Allergy Clin Immunol. 2025 Nov 14:S0091-6749(25)01126-1. doi: 10.1016/j.jaci.2025.10.033. Online ahead of print. J Allergy Clin Immunol. 2025. PMID: 41242640 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.
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