22 Result(s)

Article

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

Inflammatory Bowel Diseases (IBD) are known to occur in association with Hirschsprung disease (HSCR). Most of cases are represented by Crohn Disease (CD) occurring in patients with Total Colonic Aganglionosis ...

M Erculiani, F Poluzzi, G Mottadelli, E Felici… in Orphanet Journal of Rare Diseases (2023)

Article

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

Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) is a rare condition associated with plaque-type psoriasis, generalized pustular psoriasis, palmoplantar pus...

S. Signa, E. Campione, M. Rusmini, S. Chiesa, A. Grossi… in Pediatric Rheumatology (2019)

Article

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

R Caorsi, A Grossi, A Insalaco, M Alessio, S Martino, E Cortis… in Pediatric Rheumatology (2015)

Article

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

A Bertoni, S Carta, E Balza, P Catellani, C Pellecchia, F Penco… in Pediatric Rheumatology (2015)

Article

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

S Signa, M Rusmini, E Campione, I Gueli, A Grossi, A Omenetti… in Pediatric Rheumatology (2015)

Article

B cells characterization in ADA2 Deficiency patients

F Schena, S Volpi, R Caorsi, C Pastorino, F Penco, F Kalli… in Pediatric Rheumatology (2015)

Article

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

M Rusmini, S Federici, F Caroli, A Grossi, M Baldi, L Obici… in Pediatric Rheumatology (2015)

Article

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

A Insalaco, G Prencipe, PS Buonuomo, I Ceccherini, C Bracaglia… in Pediatric Rheumatology (2013)

Article

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

A Naselli, L Cantarini, A Insalaco, M Alessio, A Tommasini… in Pediatric Rheumatology (2013)

Article

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

R Caorsi, A Insalaco, L Obici, L Cantarini, A Meini, M Alessio… in Pediatric Rheumatology (2013)

Article

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

A Insalaco, PS Buonuomo, C Bracaglia, M Pardeo, I Ceccherini… in Pediatric Rheumatology (2013)

Article

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

M Doglio, R Papa, R Caorsi, S Federici, M Finetti, A Naselli… in Pediatric Rheumatology (2013)

Article

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

T Bachetti, S Chiesa, P Castagnola, D Bani, E Di Zanni… in Pediatric Rheumatology (2013)

Article

Unexplained recurrent arthritis as presenting sign of hereditary autoinflammatory syndromes

F Zulian, G Vigo, F Vittadello, I Ceccherini, L Obici, G Martini in Pediatric Rheumatology (2011)

Article

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

S Federici, F Caroli, MP Sormani, A Meini, R Caorsi, G Martini… in Pediatric Rheumatology (2008)

Article

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

MG Alpigiani, M Haupt, A Calcagno, M Gattorno, I Ceccherini… in Pediatric Rheumatology (2008)