91 Result(s)

Article

Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation

Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most common pediatric autoinflammatory fever syndrome, Perio...

Y. Vyzhga, H. Wittkowski, V. Hentgen, S. Georgin-Lavialle… in Pediatric Rheumatology (2024)

Article

Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project

Among the various numbers of different autoinflammatory diseases (AIDs), the absolute majority of them remains rare, with a single representative in large populations. This project, endorsed by PRES, supported...

Y. Vyzhga, V. Hentgen, R. Caorsi, H. Wittkowski… 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

Proceedings of the 23^rd Paediatric Rheumatology European Society Congress: part one

F. De Benedetti, J. Anton, M. Gattorno, H. Lachmann, I. Kone-Paut… in Pediatric Rheumatology (2017)

Article

Proton pump inhibitors protect mice from acute systemic inflammation and induce long-term cross-tolerance

Incidence of sepsis is increasing, representing a tremendous burden for health-care systems. Death in acute sepsis is attributed to hyperinflammatory responses, but the underlying mechanisms are still unclear....

E Balza, P Piccioli, S Carta, R Lavieri, M Gattorno, C Semino… in Cell Death & Disease (2016)

Article

How experts on autoinflammatory diseases classify inherited periodic fevers: preliminary results of the Eurofever Delphi Survey

S Federici, F Vanoni, S Ozen, J Frenkel, H Lachmann, A Martini… in Pediatric Rheumatology (2015)

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

Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency

J Jeyaratnam, N ter Haar, H Lachmann, A Simon, P Brogan, M Doglio… 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

Enlarging the clinical spectrum of SAVI syndrome

R Caorsi, G Rice, S Volpi, F Cardinale, A Buoncompagni, Y Crow… in Pediatric Rheumatology (2015)

Article

Development of the autoinflammatory disease damage index (ADDI)

K Annink, N ter Haar, M Gattorno, H Lachmann… in Pediatric Rheumatology (2015)

Article

How experts on Autoinflammatory diseases classify Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA): preliminary results of the Eurofever Delphi survey

F Vanoni, S Federici, S Ozen, J Frenkel, H Lachmann, A Martini… in Pediatric Rheumatology (2015)

Article

Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency

R Caorsi, A Omenetti, A Morreale, A Insalaco, A Buoncompagni… in Pediatric Rheumatology (2015)

Article

Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome

S Chiesa, R Caorsi, I Ingrosso, F Bellora, F Penco, A Bertoni… in Pediatric Rheumatology (2015)

Article

Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR)

D Konukbay, D Yildiz, C Acikel, B Sozeri, B Makay, NA Ayaz… in Pediatric Rheumatology (2015)

Article

Distinct cerebrovascular features in patients with ADA2 deficiency

MS Severino, R Caorsi, C Gandolfo, C Martinetti, A Martini… in Pediatric Rheumatology (2015)

Article

Juvenile eosinophilic fasciitis: report of three cases with a review of the literature

R Papa, P Nozza, C Granata, R Caorsi, M Gattorno, A Martini… 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

Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study

H Lachmann, M Cattalini, L Obici, R Barcellona, A Speziale… in Pediatric Rheumatology (2015)