A5012051542- Muscle Physiology and Disorders
- RNA Research and Splicing
- RNA Interference and Gene Delivery
- Immunodeficiency and Autoimmune Disorders
- Redox biology and oxidative stress
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Advanced biosensing and bioanalysis techniques
- Cardiomyopathy and Myosin Studies
- Retinal Development and Disorders
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- Sulfur Compounds in Biology
- Fetal and Pediatric Neurological Disorders
- interferon and immune responses
- COVID-19 Clinical Research Studies
- Immune Cell Function and Interaction
- Conducting polymers and applications
- Mitochondrial Function and Pathology
- Viral Infections and Immunology Research
- Biotin and Related Studies
- Genomics and Rare Diseases
- Peptidase Inhibition and Analysis
- Exercise and Physiological Responses
- SARS-CoV-2 and COVID-19 Research
Bambino Gesù Children's Hospital
2014-2025
University of Ferrara
2012-2020
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2020
Azienda Sanitaria Locale Roma 3
2017
Boston Children's Hospital
2011
Roma Tre University
2008
<h3>Objectives</h3> To analyse the prevalence of <i>CECR1</i> mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes context inflammation or polyarteritis nodosa (PAN). Forty-eight from 43 families were included study. <h3>Methods</h3> Direct sequencing was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity analysed monocyte isolated and healthy controls incubated adenosine without an ADA1 inhibitor....
With the aim to individuate alleles that may reflect a higher susceptibility disease, in present study we analyzed HLA allele frequency distribution group of 99 Italian patients affected by severe or extremely form COVID-19. After application Bonferroni's correction for multiple tests, significant association was found HLA-DRB1*15:01, -DQB1*06:02 and -B*27:07, after comparing results reference 1017 individuals, previously typed our laboratory. The increased frequencies observed contribute...
STAT6 (signal transducer and activator of transcription 6) is a factor that plays central role in the pathophysiology allergic inflammation. We have identified 16 patients from 10 families spanning three continents with profound phenotype early-life onset immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, anaphylaxis. The cases were either sporadic (seven...
Congenital disorders of glycosylation (CDG) are a group metabolic diseases due to defects in protein and lipid glycosylation. We searched for the primary defect 3 children from 2 families with severe neurological phenotype, including profound developmental delay, intractable epilepsy, progressive microcephaly, hypotonia elevated blood creatine kinase levels, early fatal outcome. There was clinical evidence muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation...
The Popeye domain–containing 1 (POPDC1) gene encodes a plasma membrane–localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 an essential regulator of structure and function cardiac skeletal muscle; however, mutations have not been associated with human muscular diseases. Here, we described homozygous missense variant (c.602C>T, p.S201F) POPDC1, identified by whole-exome sequencing, family 4 arrhythmia limb-girdle dystrophy (LGMD). This...
<h3>Objective</h3> Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness. It has recently been reported that single nucleotide polymorphisms (SNPs) located in the <i>SPP1</i> and <i>LTBP4</i> loci can account for some of inter-individual variability observed clinical disease course. The validation genetic association large independent cohorts a key process rare diseases order to qualify prognostic biomarkers stratify patients trials. <h3>Methods</h3> from five...
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis syndrome. Pathogenic variants KMT2D (MLL2) were detected 27 patients, KDM6A gene one. CHD was diagnosed 19/27 (70%) with variant, while the single patient change normal heart. anatomic types among included aortic coarctation (4/19 = 21%) alone or associated an additional CHD, bicuspid valve perimembranous subaortic...
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...
Background Autoinflammatory diseases (AIDs) are a group of disease characterized by excessive activation the innate immune system with episodes spontaneous inflammation that can affect different organs. Many monogenic or acquired autoinflammatory described in literature. More recently concept polygenic complex inheritance has been introduced. Nucleotide binding oligomerization domain containing 2 (NOD2) gene variants associated Crohn’s (CD), Blau syndrome and most onset adult called...
Objective To evaluate the impact of early treatment and IL1RN genetic variants on response to anakinra in systemic juvenile idiopathic arthritis (JIA). Methods Response was defined as achievement clinically inactive disease (CID) at 6 months without glucocorticoid treatment. Demographic, clinical, laboratory characteristics 56 patients were evaluated univariate multivariate analyses predictors Six single‐nucleotide polymorphisms (SNPs) gene, previously demonstrated be associated with a poor...
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...
We collect the nasopharyngeal and oropharyngeal swabs of 63 subjects with severe symptoms or contacts COVID-19 confirmed cases to perform a pilot-study aimed verify "in situ" expression SARS-CoV-2 host invasion genes (ACE2, TMPRSS2, PCSK3, EMILIN1, EMILIN2, MMRN1, MMRN2, DPP4). ACE2 (FC = +1.88, p ≤ 0.05) DPP4 +3, < 0.01) showed significant overexpression in patients. levels had good performance (AUC 0.75; 0.001) distinguishing patients from negative subjects. Interestingly, we found...
Haploinsufficiency of A20 (HA20) is an inflammatory disease caused by mutations in the TNFAIP3 gene classically presenting with Behcet’s-like disease. acts as inhibitor inflammation through its effect on NF-kB pathway. Here we describe four consanguineous patients (three sisters and their mother) a predominantly autoimmune phenotype, including thyroiditis, type I diabetes, hemolytic anemia chronic polyarthritis. All had recurrent oral ulcers, only 1 patient also fever episodes, classical...
Collagen VI gene mutations cause Ullrich and Bethlem muscular dystrophies. Pathogenic frequently have a dominant negative effect, with defects in collagen chain secretion assembly. It is agreed that, conversely, haploinsufficiency has no pathological consequences. Thus, RNA-targeting approaches aimed at preferentially inactivating the mutated COL6 messenger may represent promising therapeutic strategy. By vitro studies we obtained preferential depletion of COL6A2 messenger, by targeting...