A5067139338- Inflammasome and immune disorders
- Autoimmune and Inflammatory Disorders Research
- Immunodeficiency and Autoimmune Disorders
- IL-33, ST2, and ILC Pathways
- Immune Cell Function and Interaction
- Multiple Myeloma Research and Treatments
- Eosinophilic Disorders and Syndromes
- Urticaria and Related Conditions
- Sarcoidosis and Beryllium Toxicity Research
- interferon and immune responses
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Blood disorders and treatments
- Immune Response and Inflammation
- Gout, Hyperuricemia, Uric Acid
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Systemic Lupus Erythematosus Research
- Hematopoietic Stem Cell Transplantation
- Autoimmune and Inflammatory Disorders
- Otitis Media and Relapsing Polychondritis
- Ocular Diseases and Behçet’s Syndrome
- T-cell and B-cell Immunology
- Pediatric health and respiratory diseases
- Chronic Lymphocytic Leukemia Research
- Peptidase Inhibition and Analysis
Hospital Clínic de Barcelona
2016-2025
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2016-2025
Universitat de Barcelona
2016-2025
CS Diagnostics
2023
NIHR Leeds Musculoskeletal Biomedical Research Unit
2021
University of Leeds
2021
Institute of Molecular Medicine
2021
Hospital Sant Joan de Déu Barcelona
2008-2018
Istituti di Ricovero e Cura a Carattere Scientifico
2017
University of Pisa
2017
MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and interleukin-1 (IL-1Rs). deficiency in mice leads to susceptibility broad range of pathogens experimental settings infection. We describe distinct situation natural setting human Nine children with autosomal recessive suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease. However, these patients were otherwise healthy, normal resistance other microbes....
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- receptor-mediated immunity. We documented the clinical features outcome of 48 patients with IRAK-4 deficiency 12 MyD88 deficiency, from 37 kindreds in 15 countries. The were indistinguishable. There no severe viral, parasitic, fungal diseases, range bacterial infections was narrow. Noninvasive occurred 52 patients, a high incidence...
Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory disease. Although heterozygous germline gain-of-function NLRP3 mutations are cause of this disease, conventional genetic analyses fail to detect disease-causing in ∼40% patients. Since somatic mosaicism has been detected several mutation-negative NOMID/CINCA syndrome patients, we undertook study...
The NLRP3 inflammasome is a multiprotein complex that mediates caspase-1 activation and the release of proinflammatory cytokines, including interleukin (IL)-1β IL-18. Gain-of-function variants in gene encoding (also called cryopyrin) lead to constitutive excessive IL-1β production cryopyrin-associated periodic syndromes (CAPS). Here we present functional screening automated analysis 534 from international INFEVERS registry ClinVar database. This resource captures effect on ASC speck...
Abstract Objective Blau syndrome and early‐onset sarcoidosis are NOD2 gene–associated chronic autoinflammatory diseases characterized by skin rash, arthritis, and/or eye involvement, with noncaseating granulomata as their pathologic hallmark. This study was undertaken to describe the expanded clinical phenotype, treatment outcomes, gene mutation analysis in a Spanish cohort pediatric granulomatous disease resembling syndrome/early‐onset sarcoidosis. Methods Clinical, laboratory, data on 12...
Abstract Objective To investigate the prevalence of tumor necrosis factor receptor–associated periodic syndrome (TRAPS) among outpatients presenting with recurrent fevers and clinical features consistent TRAPS. Methods Mutational screening was performed in affected members 18 families which multiple had symptoms compatible TRAPS 176 consecutive subjects sporadic (nonfamilial) “TRAPS‐like” symptoms. Plasma concentrations soluble receptor superfamily 1A (sTNFRSF1A) were measured,...
In Brief Objective: To study the predictive value of Nod2/CARD15 gene variants along with disease phenotypic characteristics for requirement initial surgery and surgical recurrence in Crohn's (CD). Summary Background Data: play an important role susceptibility to CD. Studies genotype-phenotype relationship suggest that these are associated development intestinal strictures. Preliminary reports analyzing association between need have produced inconsistent results. Methods: A total 170 CD...
<h3>Objective</h3> To report on the demographic data from first 18 months of enrollment to an international registry autoinflammatory diseases in context Eurofever project. <h3>Methods</h3> A web-based collecting baseline and clinical information related conditions is available member area PRINTO web-site. Anonymised were collected with standardised forms. <h3>Results</h3> 1880 (M:F=916:964) individuals 67 centers 31 countries have been entered registry. Most patients (1388; 74%), reside...
Objective. To report baseline articular, functional and ocular findings of the first international prospective cohort study Blau syndrome (BS). Methods. Three-year, multicentre, observational on (HAQ, Childhood HAQ VAS global pain), ophthalmological, therapeutic radiological data in BS patients. Results. Baseline 31 recruited patients (12 females 19 males) from 18 centres 11 countries are presented. Of patients, carried p.R334W NOD2 mutation, 9 p.R334Q various other missense mutations; 20...
Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing.This study aimed to obtain an experts' consensus the significance gene variants in four well-known genes: MEFV, TNFRSF1A, NLRP3 MVK.We configured a MOLGENIS web platform share analyse pathogenicity classifications manage consensus-based classification process. Four...
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis made based on clinical immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% cases CVID have a known underlying genetic cause. We analyzed whole-exome sequencing copy number variants data 36 children adolescents diagnosed with healthy relatives...
Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts binding motif of the regulatory 14-3-3 proteins within pyrin. Here, we investigate family clinical features consistent PAAND in whom novel p.E244K mutation, located +2 site pyrin, has been found.Multiplex cytokine analyses were performed on patient and control serum. Peripheral blood mononuclear cells stimulated ex vivo...
Cryopyrin-associated periodic syndrome (CAPS) is caused by gain-of-function NLRP3 mutations. Recently, somatic mosaicism has been reported in some CAPS patients who were previously classified as 'mutation-negative'. We describe here the clinical and laboratory findings eight British adult presented with symptoms typical of other than an onset mid-late adulthood. All underwent comprehensive investigations including analysis gene using Sanger amplicon-based deep sequencing (ADS) along...
: Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous articular (CINCA) are dominantly inherited diseases associated to gain-of-function NLRP3 mutations included in the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic mosaicism has been detected ≈35% patients with CINCA. However, no data currently available regarding relevance this mechanism other CAPS phenotypes.To evaluate as disease-causing...
The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset disease (AID) due to postzygotic UBA1 variants.To investigate the presence of VEXAS among patients with undiagnosed AID. Additional studies evaluated mosaicism distribution circulating cytokines.Gene analyses were performed by both Sanger amplicon-based deep sequencing. Patients' data collected from their medical charts. Cytokines quantified Luminex.Genetic enrolled (n=42) identified 30...
Abstract Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory condition resulting from monoallelic NLRP3 variants that facilitate IL-1β production. Although these are gain-of-function characterized by hypersensitivity to cell priming, patients with CAPS and animal models of the disease may present inflammatory flares without identifiable external triggers. Here we find CAPS-associated forming constitutively active inflammasome, which induce increased basal cleavage gasdermin...