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214 results

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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: chiesa s. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasigliè D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M. Borghini S, et al. Among authors: chiesa s. Arthritis Rheum. 2011 Mar;63(3):830-9. doi: 10.1002/art.30170. Arthritis Rheum. 2011. PMID: 21360512 Free PMC article.
Principles of inflammation for the pediatrician.
Omenetti A, Chiesa S, Gattorno M. Omenetti A, et al. Among authors: chiesa s. Pediatr Clin North Am. 2012 Apr;59(2):225-43. doi: 10.1016/j.pcl.2012.03.004. Pediatr Clin North Am. 2012. PMID: 22560568 Review.
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J. Holzinger D, et al. Among authors: chiesa s. J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27. J Allergy Clin Immunol. 2015. PMID: 26025129 Free PMC article.
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: chiesa s. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.
Bertoni A, Carta S, Baldovini C, Penco F, Balza E, Borghini S, Di Duca M, Ognio E, Signori A, Nozza P, Schena F, Castellani P, Pastorino C, Perrone C, Obici L, Martini A, Ceccherini I, Gattorno M, Rubartelli A, Chiesa S. Bertoni A, et al. Among authors: chiesa s. J Allergy Clin Immunol. 2020 Jan;145(1):368-378.e13. doi: 10.1016/j.jaci.2019.05.034. Epub 2019 Jun 10. J Allergy Clin Immunol. 2020. PMID: 31194989
A Knock-In Mouse Model of Cryopyrin-Associated Periodic Syndromes.
Bertoni A, Prigione I, Chiesa S, Ceccherini I, Gattorno M, Rubartelli A. Bertoni A, et al. Among authors: chiesa s. Methods Mol Biol. 2023;2696:281-297. doi: 10.1007/978-1-0716-3350-2_19. Methods Mol Biol. 2023. PMID: 37578730 Review.
214 results