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Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, Bottani A, Kumps C, Angelini F, Bellutti Enders F, Christen-Zaech S, Rizzi M, Renella R, Beck-Popovic M, Poloni C, Frossard V, Blouin JL, Rivolta C, Riccio O, Candotti F, Hofer M, Unger S, Superti-Furga A. Atallah I, et al. Among authors: candotti f. Clin Genet. 2021 Jun;99(6):780-788. doi: 10.1111/cge.13942. Epub 2021 Feb 21. Clin Genet. 2021. PMID: 33586135
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L. Segarra NG, et al. Among authors: candotti f. Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19. Am J Med Genet A. 2015. PMID: 26286438
[Transient hypogammaglobulinemia of infancy].
Bellutti Enders F, Conti F, Candotti F, Angelini F. Bellutti Enders F, et al. Among authors: candotti f. Rev Med Suisse. 2017 Apr 5;13(557):739-742. Rev Med Suisse. 2017. PMID: 28722362 French.
Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients.
Bibert S, Guex N, Lourenco J, Brahier T, Papadimitriou-Olivgeris M, Damonti L, Manuel O, Liechti R, Götz L, Tschopp J, Quinodoz M, Vollenweider P, Pagani JL, Oddo M, Hügli O, Lamoth F, Erard V, Voide C, Delorenzi M, Rufer N, Candotti F, Rivolta C, Boillat-Blanco N, Bochud PY; RegCOVID Study Group. Bibert S, et al. Among authors: candotti f. Front Immunol. 2021 May 31;12:666163. doi: 10.3389/fimmu.2021.666163. eCollection 2021. Front Immunol. 2021. PMID: 34135895 Free PMC article.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: candotti f. J Clin Immunol. 2023 Oct;43(7):1566-1580. doi: 10.1007/s10875-023-01517-4. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37273120 Free PMC article.
188 results