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Page 1
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.
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.
Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S. Fournier B, et al. Among authors: fusaro m. J Allergy Clin Immunol. 2021 Feb;147(2):740-743.e9. doi: 10.1016/j.jaci.2020.05.052. Epub 2020 Jun 17. J Allergy Clin Immunol. 2021. PMID: 32562707 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
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.
Bret Puvilland C, Boisson B, Fusaro M, Bustamante J, Bertrand Y, Ceraulo A, Ouachée-Chardin M. Bret Puvilland C, et al. Among authors: fusaro m. J Clin Immunol. 2021 Jul;41(5):1099-1102. doi: 10.1007/s10875-021-00992-x. Epub 2021 Feb 17. J Clin Immunol. 2021. PMID: 33598805 Free PMC article. No abstract available.
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome.
Taieb G, Kaphan E, Duflos C, Lebrun-Frénay C, Rigau V, Thouvenot E, Duhin-Gand E, Lefaucheur R, Hoang-Xuan K, Coulette S, Ouallet JC, Menjot de Champfleur N, Tranchant C, Picard C, Fusaro M, Sepulveda FE, Labauge P, de Saint Basile G. Taieb G, et al. Among authors: fusaro m. Neurol Neuroimmunol Neuroinflamm. 2021 Mar 3;8(3):e970. doi: 10.1212/NXI.0000000000000970. Print 2021 May. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 33658321 Free PMC article.
362 results