A5074228391- Immunodeficiency and Autoimmune Disorders
- Autoimmune and Inflammatory Disorders Research
- Systemic Lupus Erythematosus Research
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Adolescent and Pediatric Healthcare
- Inflammasome and immune disorders
- Inflammatory Myopathies and Dermatomyositis
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cytokine Signaling Pathways and Interactions
- interferon and immune responses
- Systemic Sclerosis and Related Diseases
- Eosinophilic Disorders and Syndromes
- Leprosy Research and Treatment
- Diagnosis and Treatment of Venous Diseases
- Influenza Virus Research Studies
- RNA regulation and disease
- Peripheral Neuropathies and Disorders
- Whipple's Disease and Interleukins
- Dermatological and Skeletal Disorders
- Hematological disorders and diagnostics
- Cytomegalovirus and herpesvirus research
- Exercise and Physiological Responses
- Blood disorders and treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
Bambino Gesù Children's Hospital
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2017-2024
Center for Rheumatology
2015
Objective To evaluate the expression of type I interferon ( IFN α/β)– and II γ)–inducible genes in muscle biopsy specimens from patients with juvenile dermatomyositis DM ) to correlate their levels histologic clinical features. Methods Expression ‐inducible proinflammatory cytokines were assessed by quantitative polymerase chain reaction (n = 39), Duchenne's muscular dystrophy DMD ), healthy controls. Muscle sections stained scored for severity histopathologic The charts reviewed features at...
The anti-inflammatory agents glucocorticoids (GC) are the only available treatment for Duchenne muscular dystrophy (DMD). However, long-term GC causes muscle atrophy and wasting. Thus, targeting specific mediator of inflammatory response may be more specific, efficacious, with fewer side effects. pro-inflammatory cytokine interleukin (IL) 6 is overproduced in patients DMD mdx, animal model human DMD. We tested ability inhibition IL6 activity, using an interleukin-6 receptor (Il6r)...
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 5 such and role IS as a marker disease activity severity. Methods. Expression levels were determined by quantitative real-time PCR. Results. Five white identified carrying CECR1 mutations. The before treatment elevated 4 out decreased after treatment. Conclusion. Our data confirm high variability DADA2...
We describe a 2 years boy with two previously undescribed frameshift mutations in the interferon (IFN)α/β receptor (IFNAR2) gene presenting hemophagocytic lymphohistiocytosis (HLH) following measles-mumps-rubella vaccination. Functional analyses show absence of response to type I IFN patient's cells, as revealed by lack phosphorylation STAT1 and induction interferon-stimulated genes upon ex vivo stimulation IFNα. HLH has been reported patients inborn errors IFN-mediated immune responses...
Objective To investigate whether abnormalities in B cell subsets patients with juvenile idiopathic arthritis ( JIA ) correlate clinical features and response to treatment. Methods A total of 109 diagnosed as having oligoarticular or polyarticular were enrolled the study. peripheral blood synovial fluid analyzed by flow cytometry. Results Switched memory cells significantly increased compared age‐matched healthy controls P < 0.0001). When divided according age at onset , early‐onset...
Systemic lupus erythematosus (SLE) is an autoimmune disease causing significant morbidity and mortality, despite important improvements in its management the last decades. The objective of this work to investigate role IFN-γ pathogenesis childhood-onset systemic (cSLE), evaluating crosstalk between IFN-α expression T-bet, a transcription factor induced by IFN-γ, B cells patients with cSLE. Expression levels both IFN-γ-induced genes were upregulated We found increased serum CXCL9 CXCL10 Type...
Objective To investigate the activation of IFNγ signaling pathway in monocytes patients with secondary hemophagocytic lymphohistiocytosis (sHLH)/macrophage syndrome (MAS) and to evaluate whether levels phosphorylated STAT1 represent a biomarker for identification at early stages disease. Methods Fresh whole blood samples from pediatric active sHLH/MAS, not receiving (n=10) glucocorticoids (n=14) time sampling, were prospectively collected. As disease control groups, systemic juvenile...
Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory condition that presents with fever, rash and arthritis. At onset systemic features are predominant the diagnosis may be a challenge. Secondary hemophagocytic lymphohistiocytosis (sHLH) forms associated different disorders, including rheumatic diseases, this form called macrophage activation syndrome (MAS). CXCL9 levels, chemokine induced by IFNγ, significantly elevated in patients sHLH or MAS correlated laboratory of disease...
Abstract Signal Transducer and Activator of Transcription 1 (STAT1) is a DNA‐binding signal transducer that regulates transcription specific genes in response to IFNγ IFNα/β stimulation. Loss‐of‐function mutations impairing STAT1 activity are known confer susceptibility intracellular bacterial viral diseases. Conversely, the few activating allow predisposition chronic mucocutaneous candidiasis disease, occur patients with combined immunodeficiency defective Th1 Th17 responses. Here, we...
<h3>Background:</h3> Paediatric systemic lupus erythematosus (pSLE) is an autoimmune disorder of childhood characterized by the production autoantibodies against nuclear antigens. In last decade, several studies showed up-regulation genes induced type I interferons (IFNα) in peripheral blood and tissues pSLE patients<sup>2</sup>. It has been reported that expression this group genes, known as IFN signature, correlates with disease activity<sup>2</sup>. More recently, also II interferon...
Objective to investigate the trend of autoantibody titers during a 2-year follow-up in pediatric systemic lupus erythematosus (pSLE) and Sjögren's syndrome (pSS). Methods Autoantibodies testing was performed every 3-4 months 2 years from disease onset cohort children with pSLE pSS. Results We enrolled 21 22 All patients at showed ANA significantly lower compared onset. Eleven (73%) were still positive years, while 4 (26%) became negative. At diagnosis, 12 (80%) homogeneous pattern, 3 (20%)...
<h3>Background</h3> Juvenile dermatomyositis (JDM) is a rare autoimmune disorder characterized by muscle weakness, skin rashes and other systemic features. The immunopathogenesis of JDM unknown, but recent biomarker studies revealed that up-regulation several type I interferon (IFN)-related mediators might play role in the development JDM. <h3>Objectives</h3> In this study, we focused our attention on inflammatory cytokine interferon-γ (IFN-γ), only member II class interferons. We analysed...
<h3>Background</h3> Systemic lupus erythematosus (SLE) is an autoimmune disease causing significant morbidity and mortality. B cells play a central role in SLE pathogenesis. T-bet, transcription factor promoting T helper-1 development. expressing T-bet are expanded aging, chronically infected individuals, murine models of autoimmunity [1, 2]. <h3>Objectives</h3> The aim our work to analyze the expression regulatory mechanisms patients with systemic (SLE). <h3>Methods</h3> intracellular was...
<h3>Background:</h3> Type I interferonopathies are genetic disorders characterized by an up-regulation of type interferon (IFN) activity. An increased expression IFN regulated genes, signature (IS), is described in these conditions. They autoinflammation and varying degrees autoimmunity or immunodeficiency. Some patients with a phenotype strongly suggestive for interferonopathy high IS, do not show any mutations known interpheronopaties related being classified as undefined...
<h3>Background</h3> 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 formulate targeted therapy approaches.Indeed, differentiate patients with IFN-related inflammation from predominantly mediated other cytokines (e.g. JIA periodic fevers), through the calculation of an score (IS). However, at moment, there not shared...
<h3>Background</h3> In the last years, an expanding group of complex genetic disorders characterized by disturbance homeostatic control IFN-mediated immune responses, have been identified, so called type I interferonopathies. An increased expression IFN regulated genes, signature (IS), is described in these conditions. IS represent a useful tool clinical practice to classify patients with suspected <h3>Objectives</h3> To evaluate correlation between presentation, analysis and IFN-score 10...
<h3>Background</h3> Interferons (IFNs) seem to play an important role in the pathogenesis of juvenile dermatomyositis (JDM). Our group previously reported that expression both type I and II IFN related genes is increased muscle biopsies JDM patients correlates with histological clinical features disease. <h3>Objectives</h3> The aim this study was investigate interferon regulated (IRGs), as well serum levels two induced chemokines (CXCL9, CXCL10) neopterin peripheral blood assess their...
<h3>Background:</h3> Our previous studies<b><sup>1</sup></b> showed high expression levels of p75NTR, the nerve growth factor (NGF) receptor, in mononuclear cells (MNCs) obtained from blood and synovial fluids patients with juvenile idiopathic arthritis (JIA) rheumatoid (RA). p75NTR binds affinity proNGF, immature form NGF whose concentration, as we recently demonstrated<sup>2</sup>, is extremely patients. In ex vivo experiments demonstrated that recombinant proNGF increases inflammatory...