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Article Synopsis
  • PFAPA is a common childhood condition characterized by symptoms like periodic fever and sore throat, which can affect the quality of life for both children and their families.
  • A study evaluated the effectiveness of Streptococcus Salivarius K12 (SSK12) in reducing the frequency and severity of febrile episodes in 117 PFAPA patients aged 6 months to 9 years.
  • Results showed that after six months of SSK12 treatment, the recurrence of febrile episodes increased significantly from every 26.1 days to every 70 days, along with reductions in fever duration and maximum temperature, as well as a decrease in related symptoms like throat infections and mouth ulcers.
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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.

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Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications.

Autoimmun 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:

Article Synopsis
  • The study focuses on defining and characterizing the disease phenotypes of adult patients with undifferentiated autoinflammatory diseases who experienced recurrent fevers and inflammatory issues, with inconclusive genetic tests.
  • It analyzed 134 patients from a reference center over several years, identifying five phenotypes, including a significant number meeting the criteria for PFAPA syndrome and several with varying predominant symptoms.
  • The treatment analysis found that medications like prednisone, colchicine, and anakinra were commonly prescribed, with effectiveness rates of 41.3%, 40.2%, and 58.3% for complete responses, respectively, with specific preferences for medications based on patient phenotype.
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Article Synopsis
  • Urticaria is classified into acute (lasting less than 6 weeks) and chronic forms (lasting more than 6 weeks), with chronic urticaria having a prevalence of 0.5% to 5% and can be spontaneous or inducible.
  • In children, acute urticaria is the most common and often self-limiting, but various serious conditions must be ruled out, requiring a careful diagnostic approach to effectively
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Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage.

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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