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41 results on '"Gattorno, M"'

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

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

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

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

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

6. Development of the autoinflammatory disease damage index (ADDI)

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

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

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

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

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

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

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

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

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

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

17. Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency

18. Effect of anakinra on mortality in patients with COVID-19: a systematic review and patient-level meta-analysis

19. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

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

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

22. 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)

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

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

25. The multifaceted presentation of chronic recurrent multifocal osteomyelitis: A series of 486 cases from the Eurofever international registry

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

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

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

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

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

31. Differentiating PFAPA Syndrome From Monogenic Periodic Fevers

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

33. A controlled trial of intra-articular corticosteroids with or without methotrexate in oligoarticular juvenile idiopathic arthritis

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

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

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

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

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

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

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

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

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