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Page 1
Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy.
Charbit-Henrion F, Haas M, Chaussade S, Cellier C, Cerf-Bensussan N, Malamut G; Contributors from the AUTOIMMUNE ENTEROPATHY WORKING GROUP; Khater S, Khiat A, Cording S, Parlato M, Dragon-Durey MA, Beuvon F, Brousse N, Terris B, Picard C, Fusaro M, Rieux-Laucat F, Stolzenberg MC, Jannot AS, Mathian A, Allez M, Malphettes M, Fieschi C, Aubourg A, Zallot C, Roblin X, Abitbol V, Belle A, Wils P, Cheminant M, Matysiak-Budnik T, Vuitton L, Pouderoux P, Abramowitz L, Castelle M, Suarez F, Hermine O, Ruemmele F, Mouthon L. Charbit-Henrion F, et al. Among authors: fusaro m. Clin Gastroenterol Hepatol. 2023 May;21(5):1368-1371.e2. doi: 10.1016/j.cgh.2022.07.030. Epub 2022 Aug 6. Clin Gastroenterol Hepatol. 2023. PMID: 35944833 Free PMC article. No abstract available.
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F. Hadjadj J, et al. Among authors: fusaro m. Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4. Nat Commun. 2020. PMID: 33087723 Free PMC article.
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Pillay BA, Fusaro M, Gray PE, Statham AL, Burnett L, Bezrodnik L, Kane A, Tong W, Abdo C, Winter S, Chevalier S, Levy R, Masson C, Schmitt Y, Bole C, Malphettes M, Macintyre E, De Villartay JP, Ziegler JB, Smart JM, Peake J, Aghamohammadi A, Hammarström L, Abolhassani H, Picard C, Fischer A, Latour S, Neven B, Tangye SG, Ma CS. Pillay BA, et al. Among authors: fusaro m. J Clin Invest. 2021 Feb 1;131(3):e142434. doi: 10.1172/JCI142434. J Clin Invest. 2021. PMID: 33290277 Free PMC article. Clinical Trial.
Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation.
Sarfati E, Hadjadj J, Fusaro M, Klifa R, Grimaud M, Berteloot L, Hadchouel A, Godot C, Stolzenberg MC, Frémond ML, Pressiat C, Molina T, Fischer A, Picard C, Renolleau S, Rieux-Laucat F, Blanche S, Neven B. Sarfati E, et al. Among authors: fusaro m. J Clin Immunol. 2021 May;41(4):807-810. doi: 10.1007/s10875-020-00914-3. Epub 2021 Jan 11. J Clin Immunol. 2021. PMID: 33428086 No abstract available.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Fusaro M, Vincent A, Castelle M, Rosain J, Fournier B, Veiga-da-Cunha M, Kentache T, Serre J, Fallet-Bianco C, Delezoide AL, Renesme L, Picard FM, Lasseaux E, Aladjidi N, Seta N, Cormier-Daire V, Schaftingen EV, Neven B, Moshous D, Blesson S, Picard C. Fusaro M, et al. J Clin Immunol. 2021 Jul;41(5):958-966. doi: 10.1007/s10875-021-00985-w. Epub 2021 Feb 3. J Clin Immunol. 2021. PMID: 33534079
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.
Bardet J, Laverdure N, Fusaro M, Picard C, Garnier L, Viel S, Collardeau-Frachon S, Guillebon JM, Durieu I, Casari-Thery C, Mortamet G, Laurent A, Belot A. Bardet J, et al. Among authors: fusaro m. J Clin Med. 2021 Sep 24;10(19):4369. doi: 10.3390/jcm10194369. J Clin Med. 2021. PMID: 34640385 Free PMC article.
362 results