Claudia Bracaglia

Claudia Bracaglia
Ospedale Pediatrico Bambino Gesù | Bambino Gesù · Department of Pediatric Medicine

MD

About

134
Publications
15,661
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2,279
Citations
Additional affiliations
April 2008 - May 2009
Ospedale Pediatrico Bambino Gesù
Position
  • Health-e-Child on Juvenile Idiopathic Arthritis

Publications

Publications (134)
Article
Full-text available
Background To report baseline characteristics, patient reported outcomes and treatment of children with Juvenile Dermatomyositis (JDM) in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry. Methods Children newly diagnosed with JDM were enrolled in the CARRA Registry from 41 pediatric rheumatology centers. Baseline patient...
Article
Cutaneous leishmaniasis (CL) is the most frequent form of leishmaniasis. The auricle is an extremely rare site for CL in the Old World. Auricular CL may be mistaken for other entities, such as relapsing polychondritis (RP). Here we report a pediatric case of Old World auricular CL mimicking RP in a child successfully treated with intralesional lipo...
Article
Background MAS is a severe, life-threatening complication of rheumatic diseases that occurs most frequently in patients with sJIA. The mainstay of treatment for MAS is high dose glucocorticoids (GCs); however, GCs do not provide adequate control in all patients. Additional treatments are used without a standardized approach; however, morbidity and...
Article
Background Antiphospholipid syndrome (APS) is an autoimmune disease characterized by thrombotic events (TEs) and/or pregnancy morbidity, in association with two consecutive positive determinations (at least 12 weeks apart) of antiphospholipid antibodies (aPLs). Several manifestations which are not considered clinical criteria of APS have been ident...
Article
CD8+ T-cell activation has been demonstrated to distinguish patients with primary and infection-associated hemophagocytic lymphohistiocytosis (pHLH and iaHLH) from patients with early sepsis. We evaluated the activation profile of CD8+ T cells in patients with various forms of secondary HLH (sHLH), including macrophage activation syndrome (MAS). Fl...
Article
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Background Social determinants of health (SDH) greatly influence outcomes during the first year of treatment in rheumatoid arthritis, a disease similar to polyarticular juvenile idiopathic arthritis (pJIA). We investigated the correlation of community poverty level and other SDH with the persistence of moderate to severe disease activity and functi...
Article
The paper describes the case of a 1-year-old Caucasian boy with a 1-month history of fever and splenomegaly. Laboratory findings showed pancytopenia, hypertriglyceridemia and hyperferritinemia. Secondary haemophagocytic lymphohistiocytosis was suspected on the basis of clinical and laboratory features. Bone marrow aspirate revealed active haemophag...
Article
Objective To determine the dose-response relationship of tumor necrosis factor (TNF) inhibition in the treatment of juvenile idiopathic arthritis (JIA). Methods Participants of the Childhood Arthritis and Rheumatology Research Alliance Registry were eligible for inclusion in the analyses if they started TNF inhibition for JIA. The primary treatmen...
Article
Objective. To assess the safety, tolerability, pharmacokinetics, and efficacy of rituximab (RTX) in pediatric patients with granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA). Methods. The Pediatric Polyangiitis Rituximab Study was a phase IIa, international, open-label, single-arm study. During the initial 6-month remission-i...
Article
Full-text available
Background Italy was the first Western country to be hit by the SARS-CoV-2 epidemic. There is now mounting evidence that a minority of children infected with SARS-CoV2 may experience a severe multisystem inflammatory syndrome, called Multisystem inflammatory Syndrome associated with Coronavirus Disease 2019 (MIS-C). To date no universally agreed ap...
Article
Full-text available
Background There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its rel...
Article
Full-text available
Background The impact of social determinants of health on children with polyarticular juvenile idiopathic arthritis (pJIA) is poorly understood. Prompt initiation of treatment for pJIA is important to prevent disease morbidity; however, a potential barrier to early treatment of pJIAs is delayed presentation to a pediatric rheumatologist. We examine...
Article
Full-text available
Background We aimed to characterize etanercept (ETN) use in juvenile idiopathic arthritis (JIA) patients enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry. Methods The CARRA Registry is a convenience cohort of patients with paediatric onset rheumatic diseases, including JIA. JIA patients treated with ETN for w...
Article
Introduction: MAS is a severe, life-threatening complication of rheumatic diseases that occurs most frequently in patients with sJIA. The mainstay of treatment for MAS is high dose glucocorticoids (GCs); however, GCs do not always provide adequate control in all patients. Additional treatments are used without a standardized approach; however, morb...
Article
Interferon-γ (IFNγ) is a pleiotropic cytokine with multiple effects on the inflammatory response and on innate and adaptive immunity. Overproduction of IFNγ underlies several, potentially fatal, hyperinflammatory or immune-mediated diseases. Several data from animal models and/or from translational research in patients point to a role of IFNγ in hy...
Article
Full-text available
Background Pleural effusion in systemic lupus erythematous (SLE) is a common symptom, and recent studies demonstrated that IL-6 has a pivotal role in its pathogenesis. Case presentation We report a case of a 15 years old Caucasian boy with a history of persistent pleural effusion without lung involvement or fever. Microbiological and neoplastic ae...
Article
Full-text available
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition characterized by a state of hyperinflammation. Blood purification techniques can blunt the inflammatory process with a rapidly relevant nonselective effect on the cytokine storm, thus potentially translating into survival benefit for these patients. In this cohort, we evaluate...
Article
Objective To evaluate in real-life the effectiveness and safety of canakinumab in Italian patients with systemic juvenile idiopathic arthritis (sJIA). Methods A retrospective multicentre study of children with sJIA was performed. Clinical features, laboratory parameters and adverse events were collected at baseline, after 6 and 12 months from star...
Article
Full-text available
Objective To assess safety, tolerability, pharmacokinetics, and efficacy of rituximab in pediatric patients with granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA). Methods PePRS (Pediatric Polyangiitis Rituximab Study) was a Phase IIa, international, open-label, single-arm study. During the initial 6-month remission inductio...
Article
Full-text available
Background and objectives. Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is extremely rare in children. We report the clinico-pathological features, long-term outcomes, and prognostic factors of a large paediatric cohort of patients with ANCA-associated kidney vasculitis. Design, setting, participants, and measurements. This ret...
Article
Background: Cytokine storm syndromes are life-threatening complications which can occur in children with rheumatic conditions (macrophage activation syndrome, MAS), inherited cytotoxicity defects (primary haemophagocytic lymphohistiocytosis, pHLH) or in course of infection or malignancies (secondary HLH, sHLH). To adequately steer subsequent treatm...
Article
Objective To describe the clinical characteristics, treatment, and outcomes of a multinational cohort of patients with macrophage activation syndrome (MAS) and thrombotic microangiopathy (TMA). Study design International pediatric rheumatologists were asked to collect retrospectively the data of patients with the co-occurrence of MAS and TMA. Clin...
Article
Full-text available
Objective To investigate the activation of the IFNγ signaling pathway in monocytes of patients with secondary hemophagocytic lymphohistiocytosis (sHLH)/macrophage activation syndrome (MAS) and to evaluate whether levels of phosphorylated STAT1 represent a biomarker for the identification of patients at early stages of the disease. Methods Fresh wh...
Article
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Antibodies to double-stranded DNA (dsDNA) are prevalent in systemic lupus erythematosus (SLE), particularly in patients with lupus nephritis, yet the nature and regulation of antigenic cell-free DNA (cfDNA) are poorly understood. Null mutations in the secreted DNase DNASE1L3 cause human monogenic SLE with anti-dsDNA autoreactivity. We report that >...
Article
Objective To describe characteristics of children with enthesitis‐related arthritis (ERA) and juvenile psoriatic arthritis (JPsA) enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry. Methods All children with ERA and JPsA were identified. Demographics, clinical characteristics, and treatments were described. Tho...
Article
Objective To evaluate the impact of early treatment and IL1RN genetic variants on the response to anakinra in systemic juvenile idiopathic arthritis (sJIA). Methods Response to anakinra was defined as clinically inactive disease (CID) at 6 months, without glucocorticoids treatment. Demographic, clinical and laboratory characteristics of 56 patient...
Article
Objective Sjögren syndrome in children is a poorly understood autoimmune disease. We aimed to describe the clinical and diagnostic features of children diagnosed with Sjögren syndrome and explore how the 2016 ACR/EULAR classification criteria apply to this population. Methods An international workgroup retrospectively collected cases of Sjögren sy...
Article
Objective To develop and test shortened versions of Manual Muscle Testing-8 (MMT-8) in juvenile dermatomyositis (JDM). Methods Construction of reduced tools was based on retrospective analysis of individual scores of MMT-8 muscle groups in three multinational datasets. The 4 and 6 most frequently impaired muscle groups were included in MMT-4 and M...
Preprint
Full-text available
Background: There is mounting evidence on the existence of a Pediatric Multi-inflammatory Syndrome related to SARS-CoV-2 (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining...
Article
Background: Children with systemic lupus erythematosus (SLE) frequently have kidney involvement. Lupus nephritis sometimes presents alone, without systemic SLE features, representing the so-called full-house nephropathy (FHN). Distinguishing patients with SLE or FHN has therapeutic and prognostic implications. Methods: In this retrospective obse...
Article
Full-text available
We describe a 2 year old boy with two previously undescribed frameshift mutations in the interferon (IFN)α/β receptor 2 (IFNAR2) gene presenting with hemophagocytic lymphohistiocytosis (HLH) following measles-mumps-rubella vaccination. Functional analyses show the absence of response to type I IFN in the patient’s cells, as revealed by the lack of...
Article
Full-text available
Objective. To develop a composite disease activity score for systemic JIA (sJIA) and to provide preliminary evidence of its validity. Methods. The systemic Juvenile Arthritis Disease Activity Score (sJADAS) was constructed by adding to the four items of the original JADAS a fifth item that aimed to quantify the activity of systemic features. Valida...
Article
Background MAS is a severe complication of rheumatic diseases and occurs most frequently in patients with sJIA. Data from animal models and from observational studies in patients suggest that interferon gamma (IFNy) is a driver of the hyperinflammation and hypercytokinemia observed in MAS. Objectives To assess the pharmacokinetics, efficacy, and s...
Article
Objectives: The aim of the study is to evaluate the compliance rate to secondary prophylaxis and the presence of rheumatic heart disease (RHD) in a cohort of Italian patients with acute rheumatic fever (ARF). Methods: This is a multicentre retrospective study. The patients were divided into two groups by the presence or absence at last follow-up...
Article
Full-text available
Aim of this study was to investigate the activation of the IFNγ pathway in the affected liver and in the blood of patients with secondary hemophagocytic lymphohistiocytosis (sHLH). To this purpose, the mRNA expression levels of IFNG and IFNγ-inducible genes as well as Tyrosine (701)-phosphorylated signal transducer and activator of transcription 1...
Article
Full-text available
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematolog...
Conference Paper
Background Use of NGS in patients with unclassifiable disease lies a possible approach to the identification of novel disease causing genes. Objectives We report a patient with an early onset inflammatory bowel disease with granulomatous lesions and recurrent HLH episodes carrying a missense mutation in the WNT6 gene. Methods A trio based Whole E...
Conference Paper
Background Systemic juvenile idiopathic arthritis (sJIA) accounts for 10-20% of all patients with JIA. The prominent systemic clinical features, the marked elevation of inflammatory markers and the absence of autoantibodies make this disease different from other JIA forms. sJIA should be considered as a polygenic autoinflammatory disease. Interleuk...
Conference Paper
Background Systemic juvenile idiopathic arthritis (sJIA) is a polygenic autoinflammatory disease. Innate immune mechanisms appear to play a central role in the pathogenesis of the disease. Nevertheless, a better understanding of the pathophysiology of sJIA is still needed to identify patients responsive to IL-1 or IL-6 targeted therapies. Objectiv...
Conference Paper
Background The NLRC4 inflammasome activation is essential in host defence, particularly against enteric pathogens. Gain-of-function mutations in NLRC4 are associated with a distinct autoinflammatory syndrome characterized by enterocolitis and recurrent HLH. Objectives To report safety and efficacy of faecal microbiota transplantation (FMT) in a pa...
Conference Paper
Background Recurrent pericarditis affects 15-30% of patients with acute pericarditis. The etiology is poorly understood, with about 80% being idiopathic. Several treatment options are available for recurrences, including NSAIDs, colchicine, glucocorticoids and IL-1 inhibitors (i.e. Anakinra). Standardized guidelines for the management of these pati...
Conference Paper
Full-text available
Background Juvenile Arthritis Disease Activity Score (JADAS) has gained increasing popularity for the measurement of the level of disease activity in patients with juvenile idiopathic arthritis (JIA). However, so far the JADAS has been validated only in children with the non-systemic categories of JIA. Objectives To develop and validate the system...
Conference Paper
Background Paediatric systemic lupus erythematosus (pSLE) is an autoimmune disorder of childhood characterized by the production of autoantibodies against nuclear antigens. In the last decade, several studies showed an up-regulation of genes induced by type I interferons (IFNα) in peripheral blood and tissues of pSLE patients². It has been reported...
Conference Paper
Background Macrophage Activation Syndrome (MAS) is a severe, life-threatening, complication of rheumatic diseases in childhood, particularly of systemic Juvenile Idiopathic Arthritis (sJIA), occurring in approximately 25% of the patients with sJIA. A score that identifies sJIA patients who are at high risk to develop MAS would be useful in clinical...
Conference Paper
Background Hyperzincaemia and hypercalprotectinemia (HandH) syndrome has been described as a new rare entity characterized by recurrent infections, dermatological involvement, increased inflammatory markers, hepatosplenomegalia and anemia. Little is known about its heterogeneous presentation, pathophysiology and treatment. Objectives To describe t...
Conference Paper
Background Macrophage activation syndrome (MAS) is a severe complication of rheumatologic conditions, mainly systemic juvenile idiopathic arthritis (sJIA), and is classified as a secondary form of hemophagocytic lymphohistiocytosis (HLH). Thrombotic microangiopathy (TMA) is a heterogeneous group of potentially fatal diseases characterized by microa...
Conference Paper
Background In the last years, an expanding group of complex genetic disorders characterized by disturbance of the homeostatic control of IFN-mediated immune responses, have been identified, so called type I interferonopathies. An increased expression of type I IFN regulated genes, IFN signature (IS), is described in these conditions. IS represent a...
Conference Paper
Background Interferon (IFN) signature analysis is experimentally used to classify pathological conditions characterized by a type I IFN dysregulation (i.e. monogenic interferonopathies, dermatomyositis, systemic lupus erythematosus), and to formulate targeted therapy approaches.Indeed, IFN signature is used to differentiate patients with IFN-relate...
Conference Paper
Full-text available
Background Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare disease characterized by persistent urticarial lesions and hypocomplementemia associated with systemic features involving musculoskeletal, pulmonary, renal and gastrointestinal systems. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although th...
Conference Paper
Background Type I interferonopathies are genetic disorders characterized by an up-regulation of type I interferon (IFN) activity. An increased expression of type I IFN regulated genes, IFN signature (IS), is described in these conditions. They are characterized by autoinflammation and varying degrees of autoimmunity or immunodeficiency. Some patien...
Article
Purpose of review: IL-18 is a pleiotropic cytokine involved in the regulation of innate and adaptive immune responses. IL-18 pro-inflammatory activities are finely regulated in vivo by the inhibitory effects of the soluble IL-18-binding protein (IL-18BP). The elevation of circulating levels of IL-18 has been described in children with systemic juv...
Article
Full-text available
Background Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory condition that presents with fever, rash and arthritis. At onset systemic features are predominant and the diagnosis may be a challenge. Secondary hemophagocytic lymphohistiocytosis (sHLH) forms may be associated with different disorders, including rheumatic diseases, and t...
Article
Full-text available
Objective An upregulation of type I interferon (IFN) stimulated genes [IFN score (IS)] was described in patients with adenosine deaminase 2 deficiency (DADA2). We describe the clinical course of 5 such patients and the role of IS as a marker of disease activity and severity. Methods Expression levels of IS were determined by quantitative real-time...
Article
Full-text available
Background and Objectives: Few studies have reported the drug retention rate (DRR) of biologic drugs in juvenile idiopathic arthritis (JIA), and none of them has specifically investigated the DRR of interleukin (IL)-1 inhibitors on systemic JIA (sJIA). This study aims to describe IL-1 inhibitors DRR and evaluate predictive factors of drug survival...
Article
Full-text available
Objective: Anti-TNF-α agents have significantly changed the management of juvenile idiopathic arthritis (JIA). We evaluated the safety and efficacy of adalimumab (ADA) and infliximab (IFX) for the treatment of JIA-associated uveitis in patients treated for ≥ 2 years. Methods: Patients with JIA-associated uveitis treated with IFX and ADA were man...
Article
Systemic juvenile idiopathic arthritis (sJIA) is considered as a polygenic autoinflammatory disease. The prominent systemic clinical features, the marked elevation of inflammatory markers, and the absence of autoantibodies make this disease very different from the other juvenile idiopathic arthritis (JIA) forms. Innate immune mechanisms appear to p...
Article
Full-text available
Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are rare systemic diseases that usually occur in adulthood. They comprise granulomatosis with polyangiitis (GPA, Wegener’s), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss syndrome). Their clinical presentation is often heterog...
Article
Full-text available
Background: The pathogenesis of macrophage activation syndrome (MAS) is not clearly understood: a large body of evidence supports the involvement of mechanisms similar to those implicated in primary hemophagocytic lymphohistiocytosis. Objective: To investigate the pathogenic role of interferon-γ (IFNγ) and the therapeutic efficacy of IFNγ neutra...
Data
P368 Introduction: Idiopathic musculoskeletal pain (IMP) is related to a negative impact in the quality of life of children and adolescents sleep problems and psychosocial factors seem to be involved in its pathogenesis, which is not fully known. Restless legs syndrome (RLS), periodic limb movements (PML) and sleep problems were observed in adults...
Article
Objective: To identify clinical predictors of relapse in childhood autoimmune chronic uveitis after stopping systemic treatment. Methods: A retrospective, multicenter, cohort study. Results: Ninety-four children in remission, receiving no treatments and with at least a 6-month followup, were enrolled. A higher probability of maintaining remiss...
Article
Full-text available
Background Macrophage activation syndrome (MAS) is a severe complication of rheumatic disease in childhood, particularly in systemic Juvenile Idiopathic Arthritis (sJIA). It is characterize by an uncontrolled activation and proliferation of T lymphocytes and macrophages. Main contentMAS is currently classified among the secondary or acquired forms...
Article
Life-threatening cytokine-release syndromes include primary (p) and secondary (s) forms of hemophagocytic lymphohistiocytosis (HLH). Below detection in healthy individuals, IFNγ levels are elevated to measurable concentrations in these afflictions suggesting a central role for this cytokine in the development and maintenance of HLH. Mimicking an in...
Article
Full-text available
Objectives Interferon-γ (IFNγ) is the pivotal mediator in murine models of primary haemophagocytic lymphohistiocytosis (pHLH). Given the similarities between primary and secondary HLH (sec-HLH), including macrophage activation syndrome (MAS), we investigate the involvement of the IFNγ pathway in MAS by evaluating levels of IFNγ and of the induced c...
Article
Incidence rates for varicella and herpes zoster were similar in patients with juvenile idiopathic arthritis receiving etanercept/methotrexate (n = 85, 184.9 patient-years [PY]) or methotrexate alone (n = 71, 199.4 PY); no complicated varicella or herpes zoster cases were reported; herpes labialis incidence was higher in patients receiving etanercep...