A5035607758- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Adolescent and Pediatric Healthcare
- Inflammatory Myopathies and Dermatomyositis
- Kawasaki Disease and Coronary Complications
- Vasculitis and related conditions
- Coronary Artery Anomalies
- Neurogenetic and Muscular Disorders Research
- Cardiovascular and exercise physiology
- Immunodeficiency and Autoimmune Disorders
- Inflammatory Bowel Disease
- Systemic Lupus Erythematosus Research
- Ocular Diseases and Behçet’s Syndrome
- Systemic Sclerosis and Related Diseases
- Rheumatoid Arthritis Research and Therapies
- Sports Performance and Training
- Muscle and Compartmental Disorders
- Cardiac Structural Anomalies and Repair
- Autoimmune Bullous Skin Diseases
- Spondyloarthritis Studies and Treatments
- Diverticular Disease and Complications
- Eosinophilic Disorders and Syndromes
- HIV/AIDS Research and Interventions
- Diagnosis and treatment of tuberculosis
- Infectious Diseases and Tuberculosis
Hospital Universitario Reina Sofía
2009-2025
Instituto Maimónides de Investigación Biomédica de Córdoba
2025
Hospital Sant Joan de Déu Barcelona
2014-2024
Institut de Recerca Sant Joan de Déu
2024
Center for Rheumatology
2015-2023
Universitat de Barcelona
2013-2019
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2019
University of Pennsylvania
2019
University of Toronto
2019
Hospital for Sick Children
2019
: 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...
<h3>Objective</h3> To report 2 patients with anti–myelin oligodendrocyte glycoprotein (MOG)-associated encephalitis who were initially misdiagnosed small vessel primary CNS vasculitis. <h3>Methods</h3> Review of symptoms, MRI and neuropathologic features, response to treatment. MOG antibodies determined in serum CSF using a cell-based assay. <h3>Results</h3> Symptoms included fever, headache, progressive mental status changes focal neurologic deficits. studies revealed lymphocytic...
Objective To evaluate the efficacy and safety of canakinumab treatment in active hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). Methods This was a 3‐part open‐label study an initial 6‐month period which patients HIDS (n = 9) received subcutaneously at dose 300 mg (or 4 mg/kg for those weighing ≤40 kg) every 6 weeks (period 1 [P1]), followed by withdrawal 2 [P2]), then 24‐month extension same 3 [P3]). The primary end point reduction frequency attacks during periods as compared...
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, usually associated with milder TRAPS phenotype than structural or pathogenic mutations. No studies differentiating R92Q-related patients pediatric and adult onset have been performed to date.To analyze clinical features outcomes diagnosed R92Q variant investigate differences between onset.A...
Increasing evidence links genetic defects affecting actin-regulatory proteins to diseases with severe autoimmunity and autoinflammation, yet the underlying molecular mechanisms are poorly understood. Dedicator of cytokinesis 11 (DOCK11) activates small Rho guanosine triphosphatase (GTPase) cell division cycle 42 (CDC42), a central regulator actin cytoskeleton dynamics. The role DOCK11 in human immune-cell function disease remains unknown.We conducted genetic, immunologic, assays four...
Abstract Background Although the concept of postoperative recurrence (POR) in Crohn’s disease (CD) has been limited to patients undergoing intestinal resection with anastomosis, some small-sized retrospective series short follow-up periods suggest that clinical POR may occur up 30% a definitive ostomy. This explain lack recommendations for monitoring and preventive strategies this setting. Our aim was assess risk current population. Methods Retrospective study from ENEIDA database GETECCU....
Churg-Strauss syndrome (CSS) is an anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis; it extremely rare in childhood and defined according to the Chapel-Hill Consensus as eosinophil-rich granulomatous inflammation involving respiratory tract necrotizing vasculitis affecting small medium-sized vessels. Children commonly have a history of asthma sinusitis whilst clinical presentation typically involves pulmonary less frequently skin, heart, gastrointestinal tract, peripheral...
Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We describe three affected siblings from Moroccan consanguineous family an early-onset chronic, symmetric erosive previously diagnosed as rheumatoid factor (RF)-negative polyarticular JIA. Autozygosity mapping identified four homozygous regions shared by all patients, located...
Abstract Background Juvenile Dermatomyositis (JDM) is the most common chronic idiopathic inflammatory myopathy in children. The diagnosis clinical. Baseline laboratory and complementary studies trace phenotype of these patients. objective this study was to describe epidemiological, clinical characteristics at JDM patients included Spanish registry, as well identify prognostic factors on Methods We retrospectively reviewed features, tests, registry. These data were analyzed assess whether...
Microscopic polyangiitis associated with antineutrophil cytoplasmic antibodies directed against myeloperoxidase rarely affects the central nervous system, and this is common in presence of other organ involvement. The authors report case a 12-year-old girl who presented multiple acute parieto-occipital hematomas as only manifestation presumed microscopic polyangiitis. Early treatment immunosuppression resulted complete recovery favorable outcome.
Kawasaki disease (KD) is an acute self-limited systemic vasculitis relatively common in childhood. The etiology of KD still unknown, although clinical, laboratory and epidemiological features suggest infectious origin or trigger. Differences on incidence between countries have been related to specific genetic factors, ethnicity, country birth some other sociocultural environmental factors. We present a population-based study Catalonia (Spain), focusing differences patients rural non-rural...