Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.

Autor:	Georgin-Lavialle S; Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, CeRéMAIA, Paris, France., Terrier B; Department of Internal Medicine, University of Paris, AP-HP, Cochin Hospital, Paris, France., Guedon AF; Sorbonne Université, Inserm, Institut Pierre-Louis d'Epidémiologie et de Santé Publique, Département de Santé Publique, Hôpital Saint-Antoine, AP-HP, Paris, France., Heiblig M; Department of Haematology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Comont T; Department of Internal Medicine and Clinical Immunology, University Hospital of Toulouse, Toulouse, France., Lazaro E; Department of Internal Medicine and Infectious Diseases, Hôpital Haut-Lévêque, Bordeaux, France., Lacombe V; Department of Internal Medicine, Angers University Hospital, Angers, France., Terriou L; Department of Internal Medicine, Lille University Hospital, Lille, France., Ardois S; Service de Médecine Interne, CHU de Rennes, Rennes, France., Bouaziz JD; Université de Paris, Service de Dermatologie, Hôpital Saint Louis, AP-HP, INSERM U944, Paris, France., Mathian A; Assistance Publique-Hôpitaux de Paris, Groupement Hospitalier Pitié-Salpêtrière, French National Referral Center for Systemic Lupus Erythematosus, Antiphospholipid Antibody Syndrome and Other Autoimmune Disorders, Service de Médecine Interne 2, Institut E3M, Paris, France., Le Guenno G; Department of Internal Medicine and Clinical Immunology, University Hospital Centre of Bordeaux, Saint Andre Hospital, Bordeaux, France.; CHU de Clermont-Ferrand, Hôpital Estaing, Service de Médecine Interne, Clermont-Ferrand, France., Aouba A; Department of Internal Medicine, Caen Université, Hôpital de Caen, Caen, France., Outh R; Service de Médecine Interne et Générale, Centre Hospitalier de Perpignan, Perpignan, France., Meyer A; Service d'Immunologie Clinique et Médecine Interne, Nouvel Hôpital Civil, CHU Strasbourg, Strasbourg, France., Roux-Sauvat M; GHND, Centre Hospitalier Pierre Oudot, BP 40348, Bourgoin-Jallieu Cedex, France., Ebbo M; Department of Internal Medicine, Aix Marseille Université, AP-HM, Hôpital de la Timone, Marseille, France., Zhao LP; Hematology Department, AP-HP, CHU of Saint Louis, Paris, France., Bigot A; Department of Internal and Clinical Medicine, University of Tours, Tours, France., Jamilloux Y; Department of Internal Medicine and Clinical Immunology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Guillotin V; Department of Internal Medicine and Clinical Immunology, University Hospital Centre of Bordeaux, Saint Andre Hospital, Bordeaux, France.; CHU de Clermont-Ferrand, Hôpital Estaing, Service de Médecine Interne, Clermont-Ferrand, France., Flamarion E; Université de Paris, Service de Médecine Interne, Paris, France., Henneton P; Service de Médecine Vasculaire, CHU Montpellier, Montpellier, France., Vial G; Department of Internal Medicine and Clinical Immunology, University Hospital Centre of Bordeaux, Saint Andre Hospital, Bordeaux, France.; CHU de Clermont-Ferrand, Hôpital Estaing, Service de Médecine Interne, Clermont-Ferrand, France., Jachiet V; Sorbonne Université, AP-HP, Hôpital Saint Antoine, Service de Médecine Interne et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Paris, France., Rossignol J; Université de Paris, Service d'Hématologie, Necker Enfants Malades, Paris, France., Vinzio S; Service de Médecine Interne, Groupe Hospitalier Mutualiste, Grenoble, France., Weitten T; Service de Médecine Interne, Centre Hospitalier (CHICAS), Gap, France., Vinit J; Service de Médecine Interne, Centre Hospitalier, Chalons, France., Deligny C; Service de Rhumatologie - Médecine Interne 5D, CHU de Martinique, Hôpital P. Zobda-Quitman, France., Humbert S; CHU de Besançon, Service de Médecine Interne, Besançon, France., Samson M; Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France., Magy-Bertrand N; CHU de Besançon, Service de Médecine Interne, Besançon, France., Moulinet T; Department of Internal Medicine and Clinical Immunology, Regional Competence Center for Systemic and Autoimmune Rare Diseases, Nancy University Hospital, UMR 7365, IMoPA, Lorraine University, CNRS, Vandoeuvre-lès-Nancy, France., Bourguiba R; Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, CeRéMAIA, Paris, France., Hanslik T; AP-HP, Hôpital Ambroise Paris, Service de Médecine Interne, Paris, France., Bachmeyer C; Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, CeRéMAIA, Paris, France., Sebert M; Hematology Department, AP-HP, CHU of Saint Louis, Paris, France., Kostine M; Department of Rheumatology, Hôpital Haut-Lévesque, Bordeaux, France., Bienvenu B; Hôpital Saint Joseph, Service de Médecine Interne, Marseille, France., Biscay P; Clinique Mutualiste Pessac Médecine Interne, Pessac, France., Liozon E; Service de Médecine Interne, CHU Dupuytren, Limoges, France., Sailler L; Department of Internal Medicine, University Hospital of Toulouse, Toulouse, France., Chasset F; Sorbonne Université, Hôpital Tenon, Service de Dermatologie et Allergologie et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Paris, France., Audemard-Verger A; Department of Internal and Clinical Medicine, University of Tours, Tours, France., Duroyon E; Service d'Hématologie Biologique, DMU BioPhyGen GH AP-HP, Centre-University de Paris, Paris, France., Sarrabay G; Laboratory of Rare and Autoinflammatory Genetic Diseases and Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), CHU Montpellier, University of Montpellier, Montpellier, France., Borlot F; Service de Médecine Interne, CH Béziers, Béziers, France., Dieval C; Service de Médecine Interne et Hématologie, CH Régional, Rochefort, France., Cluzeau T; Hematology Department, CHU of Nice, Cote d'Azur University, Nice, France., Marianetti P; CHU de REIMS, Service de Médecine Interne, Maladies Infectieuses, Immunologie Clinique, Reims, France., Lobbes H; Department of Internal Medicine and Clinical Immunology, University Hospital Centre of Bordeaux, Saint Andre Hospital, Bordeaux, France.; CHU de Clermont-Ferrand, Hôpital Estaing, Service de Médecine Interne, Clermont-Ferrand, France., Boursier G; Laboratory of Rare and Autoinflammatory Genetic Diseases and Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), CHU Montpellier, University of Montpellier, Montpellier, France., Gerfaud-Valentin M; Department of Haematology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Jeannel J; Université de Paris, Service de Médecine Interne, Paris, France., Servettaz A; CHU de REIMS, Service de Médecine Interne, Maladies Infectieuses, Immunologie Clinique, Reims, France., Audia S; Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France., Larue M; AP-HP, Service de Rhumatologie, Hôpital Henri Mondor, Créteil, France., Henriot B; Service de Médecine Interne, Centre Hospitalier René Pleven, Dinan, France., Faucher B; Department of Internal Medicine, Aix Marseille Université, AP-HM, Hôpital de la Timone, Marseille, France., Graveleau J; CHU de Nantes Hôtel Dieu, Service de Médecine Interne, Nantes, France., de Sainte Marie B; Department of Internal Medicine and Clinical Immunology, University Hospital Centre of Bordeaux, Saint Andre Hospital, Bordeaux, France.; CHU de Clermont-Ferrand, Hôpital Estaing, Service de Médecine Interne, Clermont-Ferrand, France., Galland J; Service de Médecine Interne, Hôpital Fleyriat, Centre Hospitalier Bourg-en-Bresse, France., Bouillet L; Service de Médecine Interne, Groupe Hospitalier Mutualiste, Grenoble, France., Arnaud C; Department of Internal Medicine, University Hospital of Toulouse, Toulouse, France., Ades L; Hematology Department, AP-HP, CHU of Saint Louis, Paris, France., Carrat F; Sorbonne Université, Inserm, Institut Pierre-Louis d'Epidémiologie et de Santé Publique, Département de Santé Publique, Hôpital Saint-Antoine, AP-HP, Paris, France., Hirsch P; Sorbonne Université, AP-HP, Hôpital Saint Antoine, Service d'Hématologie Biologique, Paris, France., Fenaux P; Hematology Department, AP-HP, CHU of Saint Louis, Paris, France., Fain O; Sorbonne Université, AP-HP, Hôpital Saint Antoine, Service de Médecine Interne et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Paris, France., Sujobert P; CHU de Besançon, Service de Médecine Interne, Besançon, France., Kosmider O; Service d'Hématologie Biologique, DMU BioPhyGen GH AP-HP, Centre-University de Paris, Paris, France., Mekinian A; Sorbonne Université, AP-HP, Hôpital Saint Antoine, Service de Médecine Interne et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Paris, France.
Jazyk:	angličtina
Zdroj:	The British journal of dermatology [Br J Dermatol] 2022 Mar; Vol. 186 (3), pp. 564-574. Date of Electronic Publication: 2021 Nov 28.
DOI:	10.1111/bjd.20805
Abstrakt:	Background: A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome'). Objectives: To describe clinical characteristics, laboratory findings and outcomes of VEXAS syndrome. Methods: One hundred and sixteen patients with VEXAS syndrome were referred to a French multicentre registry between November 2020 and May 2021. The frequency and median of parameters and vital status, from diagnosis to the end of the follow-up, were recorded. Results: The main clinical features of VEXAS syndrome were found to be skin lesions (83%), noninfectious fever (64%), weight loss (62%), lung involvement (50%), ocular symptoms (39%), relapsing chondritis (36%), venous thrombosis (35%), lymph nodes (34%) and arthralgia (27%). Haematological disease was present in 58 cases (50%): myelodysplastic syndrome (MDS; n = 58) and monoclonal gammopathy of unknown significance (n = 12; all patients with MGUS also have a MDS). UBA1 mutations included p.M41T (45%), p.M41V (30%), p.M41L (18%) and splice mutations (7%). After a median follow-up of 3 years, 18 patients died (15·5%; nine of infection and three due to MDS progression). Unsupervised analysis identified three clusters: cluster 1 (47%; mild-to-moderate disease); cluster 2 (16%; underlying MDS and higher mortality rates); and cluster 3 (37%; constitutional manifestations, higher C-reactive protein levels and less frequent chondritis). The 5-year probability of survival was 84·2% in cluster 1, 50·5% in cluster 2 and 89·6% in cluster 3. The UBA1 p.Met41Leu mutation was associated with a better prognosis. Conclusions: VEXAS syndrome has a large spectrum of organ manifestations and shows different clinical and prognostic profiles. It also raises a potential impact of the identified UBA1 mutation. (© 2021 British Association of Dermatologists.)
Databáze:	MEDLINE
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