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49 results on '"Gattorno, M"'

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1. Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood

2. Contact tracing, use of surgical masks, hand hygiene and social distancing represent a bundle of effective measures to control SARS-CoV-2 spreading among healthcare workers in a paediatric hospital

3. Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases

4. Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

5. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

6. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

7. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry

8. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

9. Type I interferonopathies in pediatric rheumatology

10. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

11. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicelter study

12. Validation of relapse risk biomarkers for routine use in patients with juvenile idiopathic arthritis

13. An international registry on autoinflammatory diseases: the Eurofever experience

14. Levels of soluble CD27 in sera and synovial fluid and its expression on memory T cells in patients with juvenile idiopathic arthritides

15. Tumor necrosis factor induced adhesion molecule serum concentrations in Henoch-Schonlein purpura and pediatric systemic lupus erythematosus

16. Brain perfusion spect in juvenile neuro-Behçet's disease

17. 99mTc-white cell scanning to detect gut inflammation in children with inflammatory bowel diseases or spondyloarthropathies

18. Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency

19. Persistence of disease flares is associated with an inadequate colchicine dose in familial Mediterranean fever: A national multicenter longitudinal study

20. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

21. A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry

22. Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study

23. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

24. Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency

25. The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

26. INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

27. High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

28. Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet)

29. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

30. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

31. T cell defects in patients with ARPC1B germline mutations account for their combined immunodeficiency

32. Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

33. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

34. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

35. Intra-articular corticosteroids versus intra-articular corticosteroids plus methotrexate in oligoarticular juvenile idiopathic arthritis: a multicentre, prospective, randomised, open-label trial

36. Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

37. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)

38. Registries in rheumatological and musculoskeletal conditions. Paediatric Behcet's disease: an international cohort study of 110 patients. One-year follow-up data

39. Differentiating PFAPA Syndrome From Monogenic Periodic Fevers

40. Long-term efficacy of interleukin-1 receptor antagonist (anakinra) in corticosteroid-dependent and colchicine-resistant recurrent pericarditis

41. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

42. The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age

43. Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

44. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene

45. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

46. Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints

47. Role of IL-1 Beta in the Development of Human TH17 Cells: Lesson from NLPR3 Mutated Patients

48. Follow-Up and Quality of Life of Patients with Cryopyrin-Associated Periodic Syndromes Treated with Anakinra

49. Serum amyloid protein A concentration in cryopyrin-associated periodic syndrome patients treated with interleukin-1 beta antagonist

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