Unexplained recurrent arthritis as presenting sign of hereditary autoinflammatory syndromes

por Zulian, F, Vigo, G, Vittadello, F, Ceccherini, I, Obici, L, Martini, G
Publicado 2011

Efficacy of tonsillectomy in a family with a PFAPA-like phenotype

por Alpigiani, MG, Haupt, M, Calcagno, A, Gattorno, M, Ceccherini, I, Tambroni, B
Publicado 2008

P02-032 - CAPS: a novel mutation and an unusual phenotype

por Insalaco, A, Buonuomo, PS, Bracaglia, C, Pardeo, M, Ceccherini, I, Nicolai, R, De Benedetti, F
Publicado 2013

PReS-FINAL-2199: A novel mutation in the CIAS1/NLRP3 gene associated with an unusual phenotype of CAPS

por Insalaco, A, Prencipe, G, Buonuomo, PS, Ceccherini, I, Bracaglia, C, Pardeo, M, Nicolai, R, De Benedetti, F
Publicado 2013

PW02-005 - A web registry of genotype-phenotype correlation

por Doglio, M, Papa, R, Caorsi, R, Federici, S, Finetti, M, Naselli, A, Ruperto, N, Martini, A, Ceccherini, I, Gattorno, M
Publicado 2013

Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS)

por Signa, S, Rusmini, M, Campione, E, Gueli, I, Grossi, A, Omenetti, A, Bianchi, L, Martini, A, Ceccherini, I, Gattorno, M
Publicado 2015

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke

por Caorsi, R, Grossi, A, Insalaco, A, Alessio, M, Martino, S, Cortis, E, Morreale, A, Caroli, F, Martini, A, Ceccherini, I, Gattorno, M
Publicado 2015

Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?

por Grossi, A., Rusmini, M., Cusano, R., Massidda, M., Santamaria, G., Napoli, F., Angelelli, A., Fava, D., Uva, P., Ceccherini, I., Maghnie, M.
Publicado 2023

PReS-FINAL-2196: The clinical significance of the Q703K mutation of NLRP3 gene. A multicentric national study

por Naselli, A, Cantarini, L, Insalaco, A, Alessio, M, Tommasini, A, Gallizzi, R, Signa, S, Lucherini, OM, Caroli, F, Ceccherini, I, Martini, A, Gattorno, M
Publicado 2013

P810: BONE MARROW FAILURE IN PATIENTS CARRYING VARIANTS ON CARD11 GENE.

por Beccaria, A., Grossi, A., Fioredda, F., Lanciotti, M., Palmisani, E., Terranova, P., Lupia, M., Dell’Orso, G., Ceccherini, I., Dufour, C., Miano, M.
Publicado 2022

Prospective validation of the diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in Italian children with periodic fever

por Federici, S, Caroli, F, Sormani, MP, Meini, A, Caorsi, R, Martini, G, Simonini, G, Consolini, R, Plebani, S, Baldi, M, Ceccherini, I, Martini, A, Gattorno, M
Publicado 2008

P02-024 - Clinical impact of V198M mutation in NLRP3 gene

por Caorsi, R, Insalaco, A, Obici, L, Cantarini, L, Meini, A, Alessio, M, Lepore, L, Zulian, F, Caroli, F, Ceccherini, I, Martini, A, Gattorno, M
Publicado 2013

OR7-006 – Autophagy as a player in inflammation in TRAPS

por Bachetti, T, Chiesa, S, Castagnola, P, Bani, D, Di Zanni, E, Omenetti, A, D'Osualdo, A, Fraldi, A, Ballabio, A, Ravazzolo, R, Martini, A, Gattorno, M, Ceccherini, I
Publicado 2013

Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome.

por Bertoni, A, Carta, S, Balza, E, Catellani, P, Pellecchia, C, Penco, F, Schena, F, Borghini, S, Trotta, ML, Pastorino, C, Ceccherini, I, Martini, A, Rubartelli, A, Gattorno, M, Chiesa, S
Publicado 2015

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab

por Signa, S., Campione, E., Rusmini, M., Chiesa, S., Grossi, A., Omenetti, A., Caorsi, R., Viglizzo, G. M., Galluzzo, M., Bianchi, L., Talamonti, M., Orlandi, A., Martini, A., Ceccherini, I., Gattorno, M.
Publicado 2019

Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A Gene

por Pelagatti, M A, Meini, A, Caorsi, R, Cattalini, M, Federici, S, Zulian, F, Calcagno, G, Tommasini, A, Bossi, G, Sormani, M P, Caroli, F, Plebani, A, Ceccherini, I, Martini, A, Gattorno, M
Publicado 2011

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex...

por Rusmini, M, Federici, S, Caroli, F, Grossi, A, Baldi, M, Obici, L, Insalaco, A, Tommasini, A, Caorsi, R, Gallo, E, Olivieri, AN, Marzano, AV, Coviello, D, Ravazzolo, R, Martini, A, Gattorno, M, Ceccherini, I
Publicado 2015

B cells characterization in ADA2 Deficiency patients

por Schena, F, Volpi, S, Caorsi, R, Pastorino, C, Penco, F, Kalli, F, Omenetti, A, Chiesa, S, Bertoni, A, Picco, P, Filaci, G, Aksentijevich, I, Grossi, A, Ceccherini, I, Martini, A, Traggiai, E, Gattorno, M
Publicado 2015

Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation

por 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
Publicado 2011

A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition

por Erculiani, M, Poluzzi, F, Mottadelli, G, Felici, E, ML, Novi, Caraccia, M, Grandi, A, Casella, S, Giacometti, L, Montobbio, G, Ceccherini, I, Di Marco, E, Bonaretti, C, Biassoni, R, Squillario, M, Pietrantoni, A, Villanacci, V, Pini Prato, A
Publicado 2023