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Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.
Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizzi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Naselli A, et al. Among authors: signa s. J Rheumatol. 2016 Jun;43(6):1093-100. doi: 10.3899/jrheum.150962. Epub 2016 Apr 1. J Rheumatol. 2016. PMID: 27036377
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: signa s. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab.
Signa S, Campione E, Rusmini M, Chiesa S, Grossi A, Omenetti A, Caorsi R, Viglizzo GM, Galluzzo M, Bianchi L, Talamonti M, Orlandi A, Martini A, Ceccherini I, Gattorno M. Signa S, et al. Pediatr Rheumatol Online J. 2019 Jul 8;17(1):38. doi: 10.1186/s12969-019-0336-3. Pediatr Rheumatol Online J. 2019. PMID: 31286971 Free PMC article.
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
Schena F, Penco F, Volpi S, Pastorino C, Caorsi R, Kalli F, Fenoglio D, Salis A, Bertoni A, Prigione I, Bocca P, Insalaco A, De Benedetti F, Antonini F, Grossi A, Signa S, Damonte G, Ceccherini I, Filaci G, Traggiai E, Gattorno M. Schena F, et al. Among authors: signa s. Eur J Immunol. 2021 Jan;51(1):206-219. doi: 10.1002/eji.202048549. Epub 2020 Aug 28. Eur J Immunol. 2021. PMID: 32707604 Free article.
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
Geraldo AF, Caorsi R, Tortora D, Gandolfo C, Ammendola R, Alessio M, Conti G, Insalaco A, Pastore S, Martino S, Ceccherini I, Signa S, Gattorno M, Rossi A, Severino M. Geraldo AF, et al. Among authors: signa s. AJNR Am J Neuroradiol. 2021 May;42(5):975-979. doi: 10.3174/ajnr.A7019. Epub 2021 Feb 25. AJNR Am J Neuroradiol. 2021. PMID: 33632736 Free PMC article.
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood.
Bertamino M, Signa S, Veneruso M, Prato G, Caorsi R, Losurdo G, Teutonico F, Esposito S, Formica F, Tovaglieri N, Nagel MA, Amico G, Zanetti A, Tortora D, Rossi A, Moretti P, Gattorno M, Ravelli A, Severino M; in behalf of Gaslini Stroke Study Group. Bertamino M, et al. Among authors: signa s. J Neurol. 2021 Dec;268(12):4846-4865. doi: 10.1007/s00415-021-10606-6. Epub 2021 May 27. J Neurol. 2021. PMID: 34046727
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: signa s. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
Spontaneous NLRP3 inflammasome-driven IL-1-β secretion is induced in severe COVID-19 patients and responds to anakinra treatment.
Bertoni A, Penco F, Mollica H, Bocca P, Prigione I, Corcione A, Cangelosi D, Schena F, Del Zotto G, Amaro A, Paladino N, Pontali E, Feasi M, Signa S, Bustaffa M, Caorsi R, Palmeri S, Contini P, De Palma R, Pfeffer U, Uva P, Rubartelli A, Gattorno M, Volpi S. Bertoni A, et al. Among authors: signa s. J Allergy Clin Immunol. 2022 Oct;150(4):796-805. doi: 10.1016/j.jaci.2022.05.029. Epub 2022 Jul 11. J Allergy Clin Immunol. 2022. PMID: 35835255 Free PMC article.
41 results