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http://dx.doi.org/10.55563/clinexprheumatol/x453f7 | DOI Listing |
Front Pediatr
July 2024
Pediatric Unit, Department of Health Science, Magna Grecia University of Catanzaro, Catanzaro, Italy.
Pediatr Rheumatol Online J
May 2024
Department of Pediatrics, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Background: Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most common pediatric autoinflammatory fever syndrome, Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA), has well defined clinical diagnostic criteria, but there is a subset of patients who do not meet these criteria and are classified as undefined autoinflammatory diseases (uAID). This project, endorsed by PRES, supported by the EMERGE fellowship program, aimed to analyze the evolution of symptoms in recurrent fevers without molecular diagnosis in the context of undifferentiated AIDs, focusing on PFAPA and syndrome of undifferentiated recurrent fever (SURF), using data from European AID registries.
View Article and Find Full Text PDFAutoimmun Rev
September 2024
Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain. Electronic address:
Front Allergy
November 2023
Department of Allergology, Charite University School of Medicine, Berlin, Germany.
Semin Arthritis Rheum
October 2022
Joint Academic Rheumatology Program, First Department of Propaedeutic and Internal Medicine, National and Kapodistrian University of Athens, Mikras Asias Street 75 Goudi, Athens 11527, Greece. Electronic address:
Objective: To assess the possible impact conferred by co-existing variants in MEditerranean FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype.
Methods: Consecutive patients (n = 42) who underwent screening for SAIDs by next generation sequencing (NGS) targeting 26 genes, and carried at least one MEFV gene variant, were retrospectively studied. A total of 63 MEFV gene variants mainly located in exon 10 (n = 29) and exon 2 (n = 19) were identified in 21 patients with juvenile- and 21 with adult-onset disease.
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