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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
Marrella V, Poliani PL, Casati A, Rucci F, Frascoli L, Gougeon ML, Lemercier B, Bosticardo M, Ravanini M, Battaglia M, Roncarolo MG, Cavazzana-Calvo M, Facchetti F, Notarangelo LD, Vezzoni P, Grassi F, Villa A. Marrella V, et al. Among authors: bosticardo m. J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928. J Clin Invest. 2007. PMID: 17476358 Free PMC article.
Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma.
Catucci M, Castiello MC, Pala F, Bosticardo M, Villa A. Catucci M, et al. Among authors: bosticardo m. Front Immunol. 2012 Jul 18;3:209. doi: 10.3389/fimmu.2012.00209. eCollection 2012. Front Immunol. 2012. PMID: 22826711 Free PMC article.
Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans.
Castiello MC, Bosticardo M, Pala F, Catucci M, Chamberlain N, van Zelm MC, Driessen GJ, Pac M, Bernatowska E, Scaramuzza S, Aiuti A, Sauer AV, Traggiai E, Meffre E, Villa A, van der Burg M. Castiello MC, et al. Among authors: bosticardo m. J Autoimmun. 2014 May;50(100):42-50. doi: 10.1016/j.jaut.2013.10.006. Epub 2013 Dec 25. J Autoimmun. 2014. PMID: 24369837 Free PMC article.
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.
Castiello MC, Scaramuzza S, Pala F, Ferrua F, Uva P, Brigida I, Sereni L, van der Burg M, Ottaviano G, Albert MH, Grazia Roncarolo M, Naldini L, Aiuti A, Villa A, Bosticardo M. Castiello MC, et al. Among authors: bosticardo m. J Allergy Clin Immunol. 2015 Sep;136(3):692-702.e2. doi: 10.1016/j.jaci.2015.01.035. Epub 2015 Mar 16. J Allergy Clin Immunol. 2015. PMID: 25792466 Free PMC article. Clinical Trial.
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. Volpi S, et al. Among authors: bosticardo m. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. J Exp Med. 2017. PMID: 28148688 Free PMC article.
In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B Cells.
Castiello MC, Pala F, Sereni L, Draghici E, Inverso D, Sauer AV, Schena F, Fontana E, Radaelli E, Uva P, Cervantes-Luevano KE, Benvenuti F, Poliani PL, Iannacone M, Traggiai E, Villa A, Bosticardo M. Castiello MC, et al. Among authors: bosticardo m. Front Immunol. 2017 May 2;8:490. doi: 10.3389/fimmu.2017.00490. eCollection 2017. Front Immunol. 2017. PMID: 28512459 Free PMC article.
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
Capo V, Castiello MC, Fontana E, Penna S, Bosticardo M, Draghici E, Poliani LP, Sergi Sergi L, Rigoni R, Cassani B, Zanussi M, Carrera P, Uva P, Dobbs K, Sacchetti N, Notarangelo LD, van Til NP, Wagemaker G, Villa A. Capo V, et al. Among authors: bosticardo m. J Allergy Clin Immunol. 2018 Sep;142(3):928-941.e8. doi: 10.1016/j.jaci.2017.11.015. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241731 Free PMC article.
Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation.
Sereni L, Castiello MC, Marangoni F, Anselmo A, di Silvestre D, Motta S, Draghici E, Mantero S, Thrasher AJ, Giliani S, Aiuti A, Mauri P, Notarangelo LD, Bosticardo M, Villa A. Sereni L, et al. Among authors: bosticardo m. J Allergy Clin Immunol. 2018 Oct;142(4):1272-1284. doi: 10.1016/j.jaci.2017.12.1000. Epub 2018 Feb 6. J Allergy Clin Immunol. 2018. PMID: 29421274 Free PMC article.
81 results