94 results on '"Gattorno, M"'
Search Results
2. Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab
3. Development of the autoinflammatory disease damage index (ADDI)
4. How experts on autoinflammatory diseases classify inherited periodic fevers: preliminary results of the Eurofever Delphi Survey
5. Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency
6. The RaDiCEA Project: cost of illness (COI) analysis applied to Cryopyrin Associated Periodic Syndromes (CAPS)
7. Distinct cerebrovascular features in patients with ADA2 deficiency
8. Cost-effectiveness analysis and prevention effects of ultra-orphan drugs for rare diseases: an in silico model applied to Cryopyrin Associated Periodic Syndromes (CAPS)
9. Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS)
10. B cells characterization in ADA2 Deficiency patients
11. Identification of type I interferonopathies using blood interferon signature: the experience of a pediatric rheumatology center
12. Juvenile eosinophilic fasciitis: report of three cases with a review of the literature
13. Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke
14. Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome.
15. How experts on Autoinflammatory diseases classify Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA): preliminary results of the Eurofever Delphi survey
16. Enlarging the clinical spectrum of SAVI syndrome
17. Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study
18. Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency
19. Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome
20. Long-term efficacy of IL-1 blockers in PAPA patients
21. Recommendations for the management of autoinflammatory diseases
22. A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes
23. Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR)
24. The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry
25. Gene expression profiling in understanding the molecular pathogenesis of and response to canakinumab therapy in traps
26. PReS-FINAL-2194: Evidence-based clinical classification criteria for periodic fevers
27. PReS-FINAL-2328: Developing and validating the new severity score for FMF
28. PReS-FINAL-2196: The clinical significance of the Q703K mutation of NLRP3 gene. A multicentric national study
29. PReS13-SPK-1322: Autoinflammatory in nature: what patients teach us
30. PReS-FINAL-2232: Long-term follow-up in a national cohort of MKD patients: search for clinical predictors of a spontaneous improvement
31. PReS-FINAL-2333: Long term efficacy of interleukin-1 receptor antagonist (anakinra) in a multicentric cohort of patients affected by idiopathic recurrent pericarditis
32. PReS-FINAL-2335: Preliminary analysis of 85 patients with mevalonate kinase deficiency from the eurofever registry
33. PReS-FINAL-2324: PAPA syndrome clinical spectrum and IL-1Β release
34. PReS-FINAL-2207: Results from a multicenter international registry of Familial Mediterranean Fever: validation of the new set of pediatric diagnostic criteria
35. PReS-FINAL-2237: The diagnostic challenge of osteolytic bone lesions in autoinflammatory diseases: a case report
36. PW02-037 - The Eurofever cohort of 136 patients with CAPS
37. OR5-001 – Characterization of tonsil infiltration in PFAPA
38. PW01-039 – Long-term efficacy of anakinra in SoJIA patients
39. OR7-003 – MEFV genotype, IL1B and role of NLRP3 in FMF
40. PW02-010 - The diagnostic challenge of bone lesions in AID
41. PW02-008 - TRAPS in the real world: an international registry
42. PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype
43. PW02-027 - CAPS and cost-effectiveness analysis project
44. OR13-004 – Evidence-based clinical classification criteria for periodic fevers
45. PW02-006 - PAPA syndrome clinical spectrum and IL1B release
46. PW03-018 – Efficacy of Anakinra in recurrent pericarditis
47. OR10-006 - Canakinumab in patients with TRAPS
48. P03-021 - Characterization of BM-MSC from osteopetrotic mice
49. PW02-011 - Favorable response to anakinra in aisle patients
50. PW02-007 - The Eurofever registry: 3 years of enrollment
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