Genomes and Genes
Affiliation: G. Gaslini Institute
- Serum and synovial fluid concentration of vascular endothelial growth factor in juvenile idiopathic arthritidesS Vignola
Second Division of Paediatrics Rheumatology Unit, G Gaslini Scientific Institute for Children, Genoa, Italy
Rheumatology (Oxford) 41:691-6. 2002..To evaluate the role of vascular endothelial growth factor (VEGF) in the pathogenesis of local joint inflammation in juvenile idiopathic arthritis (JIA)...
- Synovial expression of osteopontin correlates with angiogenesis in juvenile idiopathic arthritisM Gattorno
Second Division of Pediatrics, Rheumatology Unit, G Gaslini Scientific Institute for Children, Largo G Gaslini 5, 16147, Genoa, Italy
Rheumatology (Oxford) 43:1091-6. 2004..To evaluate the synovial expression of osteopontin (OPN) and its possible correlation with the degree of synovial angiogenesis in human chronic idiopathic arthritis...
- Differentiating PFAPA syndrome from monogenic periodic feversMarco Gattorno
UO Pediatria II, G Gaslini Institute, Largo G Gaslini 5, 16146, Genova, Italy
Pediatrics 124:e721-8. 2009....
- Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A geneM A Pelagatti
Istituto G Gaslini, Genoa, Italy
Arthritis Rheum 63:1141-50. 2011....
- Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutationS Borghini
Istituto G Gaslini and University of Genoa, Genoa, Italy
Arthritis Rheum 63:830-9. 2011..D294E, affecting a protein sequence crucial for ATP binding, which was identified in a Caucasian family with familial cold-induced autoinflammatory syndrome in some family members...
- Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patientsDenise Lasiglié
Rheumatology Unit, Second Division of Pediatrics G Gaslini Institute, Genoa, Italy
PLoS ONE 6:e20014. 2011..In this work we asked whether the deregulated secretion of IL-1β secondary to mutations characterizing these patients could affect the IL-23/IL-17 axis...
- Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature reviewNienke Ter Haar
Department of Paediatrics, University Medical Center Utrecht, Utrecht, The Netherlands
Ann Rheum Dis 72:678-85. 2013..To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review...
- Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian populationSilvia Federici
UO Pediatria II Reumatologia, Istituto G Gaslini, Genova, Italy
Ann Rheum Dis 71:1961-5. 2012..To evaluate the actual impact of MEFV mutations on clinical manifestations associated with fever attacks in Caucasian children with periodic fever...
- Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational surveyNatasa Toplak
Department of Allergology, Rheumatology and Clinical Immunology, University Children s Hospital, University Medical Centre Ljubljana, Slovenia
Pediatr Rheumatol Online J 8:29. 2010..abstract:..
- Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndromeM Gattorno
Istituto Giannina Gaslini, Genoa, Italy
Arthritis Rheum 58:1516-20. 2008..To evaluate the efficacy and safety of treatment with the interleukin-1 receptor antagonist anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) requiring high cumulative doses of steroids...
- Distinct expression pattern of IFN-alpha and TNF-alpha in juvenile idiopathic arthritis synovial tissueM Gattorno
Second Division of Pediatrics, G Gaslini Institute and University of Genoa, Largo G Gaslini 5, 16147, Genoa, Italy
Rheumatology (Oxford) 46:657-65. 2007..We here investigated the presence and characteristics of natural type I IFN-producing cells (IPCs), as well as IFN-alpha and TNF-alpha expression at sites of inflammation in juvenile idiopathic arthritis (JIA)...
- Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutationsMarco Gattorno
Second Division of Pediatrics, IRCCS, Istituto G Gaslini, Genoa, Italy
Arthritis Rheum 56:3138-48. 2007....
- Diagnosis and management of autoinflammatory diseases in childhoodMarco Gattorno
2nd Division of Pediatrics, G Gaslini Scientific Institute, Largo G Gaslini 5, 16147, Genova, Italy
J Clin Immunol 28:S73-83. 2008..Autoinflammatory diseases are a group monogenic inflammatory conditions characterized by an early onset during childhood...
- The pattern of response to anti-interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritisMarco Gattorno
G Gaslini Institute, Genoa, Italy
Arthritis Rheum 58:1505-15. 2008..To assess the clinical response to interleukin-1 (IL-1) blockade and in vitro IL-1beta and IL-18 secretion in patients with systemic-onset juvenile idiopathic arthritis (JIA)...
- An update on autoinflammatory diseases. New concepts for new and old diseasesM Gattorno
U O Pediatria 2, IRCCS G Gaslini and Department of Pediatrics, University of Genoa, Italy
Clin Exp Rheumatol 27:354-65. 2009..Thus, the aim of the present article is to report the main highlights from the above-mentioned meeting and to give a general update of the more recent advances in this field...
- Phenotypic and functional characterisation of CCR7+ and CCR7- CD4+ memory T cells homing to the joints in juvenile idiopathic arthritisMarco Gattorno
II Division of Pediatrics, University of Genoa, Genoa, Italy
Arthritis Res Ther 7:R256-67. 2005..Moreover, discrete patterns of chemokine receptor expression are detected in the synovial tissue...
- Neonatal lupus and a seronegative motherM Gattorno
2nd Division of Paediatrics, Department of Paediatrics, University of Genoa, G Gaslini Institute, Genoa, Italy
Lancet 363:1038. 2004
- Levels of soluble CD27 in sera and synovial fluid and its expression on memory T cells in patients with juvenile idiopathic arthritidesM Gattorno
2nd Department of Pediatrics, G Gaslini Scientific Institute for Children and University of Genoa, Largo G Gaslini 5, 16147, Genoa, Italy
Clin Exp Rheumatol 20:863-6. 2002..The aim of the present study was to evaluate the levels of soluble CD27 in sera and synovial fluids, together with its expression on circulating and synovial fluid (SF) memory T cells, in children with JIA...
- Outcome of primary antiphospholipid syndrome in childhoodM Gattorno
Dipartimento di Pediatria, Universita di Genova, Pediatria II, Istituto G Gaslini, Italy
Lupus 12:449-53. 2003..In conclusion; our analysis suggests that some children who present with the features of primary APS may progress to develop SLE or lupus-like syndrome...
- Serum and synovial fluid concentrations of matrix metalloproteinases 3 and its tissue inhibitor 1 in juvenile idiopathic arthritidesMarco Gattorno
2nd Division of Pediatrics, G Gaslini Institute for Children, Genoa, Italy
J Rheumatol 29:826-31. 2002..We investigated serum and synovial fluid (SF) concentrations of MMP-3 and its tissue inhibitor (TIMP-1) in juvenile idiopathic arthritides (JIA)...
- Synovial membrane expression of matrix metalloproteinases and tissue inhibitor 1 in juvenile idiopathic arthritidesMarco Gattorno
Department of Pathology, G Gaslini Institute for Children, Genoa, Italy
J Rheumatol 29:1774-9. 2002..We investigated synovial tissue expression of the main proteolytic enzymes (MMP-1, MMP-3, and MMP-13) and tissue inhibitor of metalloprotease 1 (TIMP-1) in juvenile idiopathic arthritides (JIA)...
- A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in childrenM Gattorno
Giannina Gaslini Institute, Genoa, Italy
Arthritis Rheum 58:1823-32. 2008..To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes...
- Lymphoid neogenesis in juvenile idiopathic arthritis correlates with ANA positivity and plasma cells infiltrationA Gregorio
2nd Division of Pediatrics, G Gaslini Institute, Genoa, Italy
Rheumatology (Oxford) 46:308-13. 2007..The aim of the study was to evaluate the pattern of the lymphoid organization in the synovial tissue of patients affected with juvenile idiopathic arthritis (JIA)...
- A polymorphic variant inside the osteopontin gene shows association with disease course in oligoarticular juvenile idiopathic arthritisR Marciano
Laboratory of Molecular Genetics, G Gaslini Institute, Largo G Gaslini 5, 16147 Genova, Italy
Ann Rheum Dis 65:662-5. 2006..In some patients the disease remains confined to a few joints (persistent oligoarticular) while in others it extends to affect more joints (oligoarticular extended). Osteopontin is thought to play a role in the pathogenesis...
- Clinical and genetic characterization of Italian patients affected by CINCA syndromeF Caroli
Department of Molecular Genetics, IRCCS G Gaslini, Genoa, Italy
Rheumatology (Oxford) 46:473-8. 2007..The clinical and genetic features of 12 unrelated Italian patients with CINCA syndrome are described, focusing on the possible influence of the presence of CIAS1/cryopyrin mutations on the phenotype of the disease and on its prognosis...
- Involvement of the hypothalamic-pituitary-adrenal axis in children with oligoarticular-onset idiopathic arthritisP Picco
Department of Pediatric Rheumatology, G Gaslini Institute, Genova, Italy
Ann N Y Acad Sci 966:369-72. 2002..Our study suggests the presence of a partial resistance to ACTH with a dysregulated pattern of secretion also in inactive o-JIA patients. These preliminary data need further confirmation in larger pediatric studies...
- Recurrent antiphospholipid-related deep vein thrombosis as presenting manifestation of systemic lupus erythematosusM Gattorno
2nd Division of Pediatrics Pediatric Rheumatology Unit, G Gaslini Scientific Institute for Children, Largo G Gaslini 5, 16147 Genoa, Italy
Eur J Pediatr 159:211-4. 2000..This issue was definitively confirmed in a subsequent follow-up...
- MICA gene polymorphisms in an Italian paediatric series of juvenile Behçet diseaseP Picco
Department of Paediatrics, G Gaslini Institute, Genoa, Italy
Int J Mol Med 10:575-8. 2002..This finding sheds light on the role of a receptor for MICA, named NKG2D, presented by natural killer cells, and CD8+, alphabetaT cells and gammadeltaT cells, usually localised in gut mucosa...
- Periodic fever, apthous stomatitis, pharyngitis and adenitis syndromeRoberta Caorsi
UO Pediatria II, G Gaslini Institute and Department of Pediatrics, University of Genoa, Genoa, Italy
Curr Opin Rheumatol 22:579-84. 2010..We report on the findings coming from the analysis of large cohorts of PFAPA patients and the possible implication for the differential diagnosis. An update on the efficacy of possible prophylactic treatments and tonsillectomy is given...
- Brain perfusion spect in juvenile neuro-BehÃ§et's diseaseS Vignola
II Division of Pediatrics, Giannina Gaslini Institute, University of Genoa, Italy
J Nucl Med 42:1151-7. 2001....
- Dynamic contrast-enhanced magnetic resonance imaging in the assessment of disease activity in patients with juvenile idiopathic arthritisClara Malattia
Pediatria II, IRCCS G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
Rheumatology (Oxford) 49:178-85. 2010..To determine the capability and reliability of dynamic contrast-enhanced MRI (DCE-MRI) in the assessment of disease activity in juvenile idiopathic arthritis (JIA)...
- HLA-G and HLA-E in patients with juvenile idiopathic arthritisIgnazia Prigione
Laboratory of Oncology, G Gaslini Scientific Institute, Largo G Gaslini 5, 16148 Genova, Italy
Rheumatology (Oxford) 50:966-72. 2011..To investigate the expression and release of HLA-G and HLA-E in JIA...
- Phenotypic and functional characterization of switch memory B cells from patients with oligoarticular juvenile idiopathic arthritisAnna Corcione
Laboratory of Oncology, IRCCS G Gaslini, Largo G Gaslini 5, Genoa, 16148, Italy
Arthritis Res Ther 11:R150. 2009..Here, we have characterized synovial fluid and tissue B-cell subsets in patients with oligoarticular juvenile idiopathic arthritis (JIA), an issue not addressed before in detail...
- Childhood-onset lupus nephritis: a single-center experience of pulse intravenous cyclophosphamide therapyGiancarlo Barbano
Nephrology Department, G Gaslini Children s Hospital, Genoa, Italy
J Nephrol 15:123-9. 2002..Medical records of 33 LN children were retrospectively analysed in order to assess the effect of treatment with pCy and corticosteroids (Cs) on renal survival and child growth...
- The hypoxic synovial environment regulates expression of vascular endothelial growth factor and osteopontin in juvenile idiopathic arthritisMaria Carla Bosco
Laboratory of Molecular Biology, Department of Pediatrics, G Gaslini Institute, Genova, Italy
J Rheumatol 36:1318-29. 2009..We characterized the contribution of the local hypoxic environment to VEGF and OPN production by monocytic cells recruited to the synovium in JIA...
- Successful treatment of idiopathic recurrent pericarditis in children with interleukin-1beta receptor antagonist (anakinra): an unrecognized autoinflammatory disease?Paolo Picco
G Gaslini Institute, University of Genoa, Genoa, Italy
Arthritis Rheum 60:264-8. 2009..The findings in these patients suggest that idiopathic recurrent pericarditis may be a previously unrecognized autoinflammatory disease...
- Cytokine flexibility of early and differentiated memory T helper cells in juvenile idiopathic arthritisSabrina Chiesa
2nd Division of Pediatrics, G Gaslini Scientific Institute for Children, Genoa, Italy
J Rheumatol 31:2048-54. 2004....
- Invasive mould infections in newborns and childrenElio Castagnola
G Gaslini Children s Hospital, Genova, Italy
Early Hum Dev 87:S67-9. 2011....
- Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositisCarlo Minetti
Neuromuscular Disease Unit, University of Genova and G Gaslini Institute, Genoa, Italy
Biochem Biophys Res Commun 333:540-3. 2005..The selective expression of CCR7 in JDM may open new perspectives in the understanding of the pathogenesis of inflammatory myopathies, offering a new tool for the differential diagnosis of these disorders...
- Severe hypoalbuminaemia in a systemic lupus erythematosus-like patientMarco Gattorno
2nd Division of Paediatrics, G Gaslini Institute for Children, Genoa, Italy
Eur J Pediatr 161:84-6. 2002..Colonoscopy revealed the presence of diffuse purpuric lesions at the level of the submucosa. Aggressive immunosuppressive treatment completely resolved the clinical picture...
- MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent feverAndrea D'Osualdo
Divisione Pediatria II Clinica Pediatrica, Genova, Italy
Eur J Hum Genet 13:314-20. 2005..Our study demonstrates that MKD is a common cause of recurrent fever also in the Italian population, where it is associated with both a wide spectrum of previously unreported MVK mutations and peculiar phenotypic features...
- Bone marrow-derived mesenchymal stem cells induce both polyclonal expansion and differentiation of B cells isolated from healthy donors and systemic lupus erythematosus patientsElisabetta Traggiai
Second Division of Pediatrics, IRCCS, Institute G Gaslini, Genova, Italy
Stem Cells 26:562-9. 2008..This study casts important questions on bone marrow mesenchymal stem cells as a therapeutic tool in autoimmune diseases in which B-cell activation is crucially implicated in the pathogenesis of the disease...
- Hypoxic synovial environment and expression of macrophage inflammatory protein 3gamma/CCL20 in juvenile idiopathic arthritisMaria Carla Bosco
G Gaslini Institute, Genoa, Italy
Arthritis Rheum 58:1833-8. 2008....
- Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implicationsAndrea D'Osualdo
Istituto G Gaslini, Genoa, Italy
Arthritis Rheum 54:998-1008. 2006..To explore tumor necrosis factor (TNF)-induced apoptosis in neutrophils from patients with TNF receptor-associated periodic syndrome (TRAPS) and to correlate the results with the different kinds of TNFRSF1A mutations...
- Coexpression of CD25 and CD27 identifies FoxP3+ regulatory T cells in inflamed synoviaClaudia R Ruprecht
Institute for Research in Biomedicine, CH 6500 Bellinzona, Switzerland
J Exp Med 201:1793-803. 2005....
- Differential regulation of chemokine production by Fcgamma receptor engagement in human monocytes: association of CCL1 with a distinct form of M2 monocyte activation (M2b, Type 2)Marina Sironi
Department of Immunology and Cell Biology, Mario Negri Institute for Pharmacological Research, Milan, Italy
J Leukoc Biol 80:342-9. 2006..Thus, CCL1 is a CC chemokine with a unique pattern of regulation associated with a distinct form of M2 (Type 2, M2b) monocyte activation, which participates in macrophage-dependent regulatory circuits of innate and adaptive immunity...
- Surface phenotype and antigenic specificity of human interleukin 17-producing T helper memory cellsEva V Acosta-Rodriguez
Institute for Research in Biomedicine, CH 6500 Bellinzona, Switzerland
Nat Immunol 8:639-46. 2007..Our results demonstrate that human T(H)-17 cells have distinct migratory capacity and antigenic specificities and establish a link between microbial products, T helper cell differentiation and homing in response to fungal antigens...
- Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaintsChiara Oretti
Children s Hospital IRCCS Burlo Garofolo, Department of Sciences of Reproduction and Development, University of Trieste, Trieste, Italy
Scand J Gastroenterol 41:430-6. 2006..The levels of IgD were measured in a series of patients with CD to evaluate the specificity of this assay in the differential diagnosis between the two conditions...
- Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter studyBaldassarre Martire
Dipartimento di Biomedicina dell Eta Evolutiva, Universita di Bari, Italy
Clin Immunol 126:155-64. 2008..No evidence justifying long-term prophylaxis with IFNgamma was obtained...
- Cerebrovascular disease and varicella in childrenGiuseppe Losurdo
Infectious Diseases Unit, G Gaslini Children s Hospital, Largo G Gaslini 5, 16147 Genoa, Italy
Brain Dev 28:366-70. 2006..On the basis of our experience and of literature data on varicella-associated stroke, we recommend that VZV infection be taken into account in every episode of stroke in children...