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A20 Haploinsufficiency: A Systematic Review of 177 Cases.
Elhani I, Riller Q, Boursier G, Hentgen V, Rieux-Laucat F, Georgin-Lavialle S. Elhani I, et al. J Invest Dermatol. 2024 Jun;144(6):1282-1294.e8. doi: 10.1016/j.jid.2023.12.007. Epub 2023 Dec 19. J Invest Dermatol. 2024. PMID: 38128752
L’haploinsuffisance de A20 : que doit connaître le clinicien?
Elhani I, Aouba A, Riller Q, Vergneault H, Boursier G, Rieux-Laucat F, Hentgen V, Georgin-Lavialle S. Elhani I, et al. Rev Med Interne. 2023 Dec 29:S0248-8663(23)01321-8. doi: 10.1016/j.revmed.2023.12.004. Online ahead of print. Rev Med Interne. 2023. PMID: 38160098 Review. French.
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Voyer TL, Debray JC, Stolzenberg MC, Pellé O, Becquard T, Riestra MR, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. Among authors: rieux laucat f. medRxiv [Preprint]. 2024 May 17:2024.05.17.24307356. doi: 10.1101/2024.05.17.24307356. medRxiv. 2024. PMID: 38798321 Free PMC article. Preprint.
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Consonni F, Moreno S, Vinuales Colell B, Stolzenberg MC, Fernandes A, Parisot M, Masson C, Neveux N, Rosain J, Bamberger S, Vigue MG, Malphettes M, Quartier P, Picard C, Rieux-Laucat F, Magerus A. Consonni F, et al. Among authors: rieux laucat f. Cell Death Dis. 2024 May 4;15(5):315. doi: 10.1038/s41419-024-06679-6. Cell Death Dis. 2024. PMID: 38704374 Free PMC article.
Mendelian Causes of Autoimmunity: the Lupus Phenotype.
Tusseau M, Khaldi-Plassart S, Cognard J, Viel S, Khoryati L, Benezech S, Mathieu AL, Rieux-Laucat F, Bader-Meunier B, Belot A. Tusseau M, et al. Among authors: rieux laucat f. J Clin Immunol. 2024 Apr 15;44(4):99. doi: 10.1007/s10875-024-01696-8. J Clin Immunol. 2024. PMID: 38619739 Review.
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, De Rosny C, Chatre E, Allatif O, Henry T, Venet F, Milhavet F, Boursier G, Belot A, Jamilloux Y, Merlin E, Duquesne A, Grateau G, Savey L, Jacques Maria AT, Pagnier A, Poutrel S, Lambotte O, Mallebranche C, Ardois S, Richer O, Lemelle I, Rieux-Laucat F, Bader-Meunier B, Amoura Z, Melki I, Cuisset L, Touitou I, Geyer M, Georgin-Lavialle S, Py BF. Cosson C, et al. Among authors: rieux laucat f. J Exp Med. 2024 May 6;221(5):e20231200. doi: 10.1084/jem.20231200. Epub 2024 Mar 26. J Exp Med. 2024. PMID: 38530241 Free PMC article.
[Cell architecture defect and autoimmunity: DOCK11 deficiency].
Rieux-Laucat F, Delage L, Boussard C. Rieux-Laucat F, et al. Med Sci (Paris). 2024 Mar;40(3):245-247. doi: 10.1051/medsci/2024006. Epub 2024 Mar 22. Med Sci (Paris). 2024. PMID: 38520098 French. No abstract available.
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N. Bianchi C, et al. Among authors: rieux laucat f. Br J Haematol. 2024 May;204(5):1899-1907. doi: 10.1111/bjh.19387. Epub 2024 Mar 3. Br J Haematol. 2024. PMID: 38432067
206 results