ArticleFrontiers in medicine2025
Clinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries.
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- Childhood Liver-Related Abnormalities After Fontan Completion: Evidence from a 20-Year Tertiary Centre Cohort.Pediatric cardiology · 2026Article
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62 authors.
Valeria CaggianoDepartment of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.
Jessica SbalchieroDepartment of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.
Micol FrassiRheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Brescia, Italy.
Eduardo Martín-NaresDepartment of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Andrea Hinojosa-AzaolaDepartment of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Mariusz SikoraDepartment of Internal Medicine, Pneumonology, Allergology, Clinical Immunology and Rare Diseases, Military Institute of Medicine, National Research Institute, Warsaw, Poland.
Karina Jahnz-RóżykDepartment of Internal Medicine, Pneumonology, Allergology, Clinical Immunology and Rare Diseases, Military Institute of Medicine, National Research Institute, Warsaw, Poland.
Francesca CrisafulliRheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Brescia, Italy.
Franco FranceschiniRheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Brescia, Italy.
Paolo AiròRheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Brescia, Italy.
Guillermo Arturo Guaracha-BasañezDepartment of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Jiram Torres-RuizDepartment of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Paolo SfrisoRheumatology Unit, Department of Medicine, University of Padua, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Padua, Italy.
Sara BindoliRheumatology Unit, Department of Medicine, University of Padua, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Padua, Italy.
Chiara BaggioRheumatology Unit, Department of Medicine, University of Padua, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Padua, Italy.
José Hernández-RodríguezClinical Unit of Autoinflammatory Diseases, Department of Autoimmune Diseases, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Hospital Clínic of Barcelona [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], University of Barcelona, Barcelona, Spain.
Verónica Gómez CaverzaschiClinical Unit of Autoinflammatory Diseases, Department of Autoimmune Diseases, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Hospital Clínic of Barcelona [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], University of Barcelona, Barcelona, Spain.
Gerard EspinosaClinical Unit of Autoinflammatory Diseases, Department of Autoimmune Diseases, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Hospital Clínic of Barcelona [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], University of Barcelona, Barcelona, Spain.
Henrique A Mayrink GiardiniRheumatology Division, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil.
Rafael Alves CordeiroRheumatology Division, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil.
Andrés González-GarcíaSystemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
Mercedes Peña RodríguezSystemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
Giuseppe LopalcoDepartment of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J) Policlinic Hospital, University of Bari, Bari, Italy.
Florenzo IannoneDepartment of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J) Policlinic Hospital, University of Bari, Bari, Italy.
Ombretta ViapianaRheumatology Unit, Department of Medicine, University and Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy.
Abdurrahman TufanDepartment of Internal Medicine, Division of Rheumatology, Gazi University Hospital, Ankara, Türkiye.
Hamit KucukDepartment of Internal Medicine, Division of Rheumatology, Gazi University Hospital, Ankara, Türkiye.
Pravin HissariaDepartment of Clinical Immunology and Allergy, Royal Adelaide Hospital, Adelaide, SA, Australia.
Mark BeecherDepartment of Clinical Immunology and Allergy, Royal Adelaide Hospital, Adelaide, SA, Australia.
Amato De PaulisDepartment of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy.
Ilaria MormileDepartment of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy.
Lorenzo DagnaDivision of Immunology, Transplants and Infectious Diseases, Università Vita-Salute San Raffaele, Milan, Italy.
Corrado CampochiaroDivision of Immunology, Transplants and Infectious Diseases, Università Vita-Salute San Raffaele, Milan, Italy.
Antonio GidaroDepartment of Biomedical and Clinical Sciences Luigi Sacco, Luigi Sacco Hospital, University of Milan, Milan, Italy.
Leyla La CavaDepartment of Biomedical and Clinical Sciences Luigi Sacco, Luigi Sacco Hospital, University of Milan, Milan, Italy.
Serena BugattiDepartment of Internal Medicine and Therapeutics, Università di Pavia, Pavia, Italy.
Alessandra MilanesiDepartment of Internal Medicine and Therapeutics, Università di Pavia, Pavia, Italy.
Guillermo Ruiz-IrastorzaFaculty of Medicine and Nursery, University of the Basque Country, UPV/EHU, Leioa, Biscay, Spain.
Matteo PigaRheumatology Unit, Department of Medical Sciences, University and AOU of Cagliari, Cagliari, Italy.
Fabrizio ContiDepartment of Internal Medicine and Medical Specialties, Rheumatology Unit, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
Paolo MoscatoUOC of Internal Medicine - Rheumatology Outpatients Unit, Azienda Ospedaliero-Universitaria San Giovanni di Dio e Ruggi D'Aragona, Salerno, Italy.
Daniela Opris-BelinskiRheumatology and Internal Medicine Department, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Rosetta VitettaUnit of Rheumatology, ASL VC Sant' Andrea Hospital, Vercelli, Italy.
Cecilia ChighizolaDepartment of Clinical Sciences and Community Health, Research Center for Adult and Pediatric Rheumatic Diseases, University of Milan, Milan, Italy.
Andreas ReckeDepartment of Dermatology, Allergology and Venerology, University Hospital Schleswig-Holstein, Lübeck, Germany.
Fernando Tornero-RomeroMedicina Interna - Enfermedades Autoinmunes Sistémicas, Hospital Fundación Jiménez Díaz, Madrid, Spain.
Marcella PreteRheumatic and Systemic Autoimmune Diseases Unit, Department of Interdisciplinary Medicine (DIM), University of Bari Medical School, Bari, Italy.
Marcello GovoniRheumatology Unit, Department of Medical Sciences, Azienda Ospedaliero-Universitaria S. Anna-Ferrara, University of Ferrara, Ferrara, Italy.
Giacomo EmmiDepartment of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
Perla Ayumi Kawakami-CamposDepartment of Ophthalmology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Paola TriggianeseUOC Medicina Interna - UOSD Geriatria, Università di Roma Tor Vergata, Rome, Italy.
Carmelo GurnariDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Gaafar RagabInternal Medicine Department, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Giza, Egypt.
Alberto BalistreriAzienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Siena, Italy.
Marcin ZiȩtkiewiczDepartment of Internal Medicine, Pneumonology, Allergology, Clinical Immunology and Rare Diseases, Military Institute of Medicine, National Research Institute, Warsaw, Poland.
Ewa Wiesik-SzewczykDepartment of Internal Medicine, Pneumonology, Allergology, Clinical Immunology and Rare Diseases, Military Institute of Medicine, National Research Institute, Warsaw, Poland.
Bruno FredianiDepartment of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.
Claudia FabianiAzienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Siena, Italy.
Anna SicuranzaAzienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Siena, Italy.
Monica BocchiaAzienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Siena, Italy.
Luca CantariniDepartment of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.
Antonio VitaleDepartment of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: A substantial overlap in demographic, clinical, and laboratory features can complicate the differential diagnosis between Schnitzler's syndrome and VEXAS syndrome. The present study was undertaken to identify clinical and laboratory parameters that should raise suspicion for VEXAS syndrome among patients previously diagnosed with, or under evaluation for, Schnitzler's syndrome. Methods: Data from male-only patients with Schnitzler's syndrome or VEXAS syndrome were obtained from international AIDA Network registries. Subjects with Schnitzler's syndrome were compared to VEXAS patients with urticarial skin manifestations resembling cutaneous features typically observed in Schnitzler's syndrome. Results: A total of 19 VEXAS patients and 18 patients with Schnitzler's syndrome were enrolled. At univariate binary logistic regression, the diagnosis of VEXAS syndrome was associated with the age at disease onset (OR = 1.08, 95% CI. 1.01-1.16, Conclusions: Patients with lymphadenopathy, thrombocytopenia, anemia, particularly in older age and in the absence of leucocytosis, are more likely to be affected by VEXAS syndrome rather than Schnitzler's syndrome.
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autoinflammatory diseasescutaneous manifestationsdifferential diagnosistreatmentUBA1 mutation
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