换一批Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about <i>UBA1</i> mosaicism.
第一作者：
Jose Manuel,Mascaro
第一单位：
Department of Dermatology, Hospital Clínic, Barcelona, Spain.;Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;School of Medicine, Universitat de Barcelona, Barcelona, Spain.
作者：
Jose Manuel,Mascaro [1]
;
Ignasi,Rodriguez-Pinto [2]
;
Gabriela,Poza [3]
;
Anna,Mensa-Vilaro [4]
;
Julian,Fernandez-Martin [5]
;
Luis,Caminal-Montero [6]
;
Gerard,Espinosa [7]
;
Jose,Hernández-Rodríguez [7]
;
Marina,Diaz [8]
;
Joana,Rita-Marques [9]
;
Raimon,Sanmarti [10]
;
Santos,Castañeda [11]
;
Dolores,Colunga [12]
;
Rubén,Coto-Hernández [6]
;
Patricia,Fanlo [13]
;
Jose Ignacio,Elejalde [13]
;
Segundo,Bujan [9]
;
Ignasi,Figueras [14]
;
Francisco Manuel,Marco [15]
;
Mariano,Andrés [16]
;
Silvia,Suárez [17]
;
Andres,Gonzalez-Garcia [18]
;
Xavier,Fustà-Novell [19]
;
Clara,Garcia-Belando [20]
;
Ana,Granados [21]
;
Maria Teresa,Fernandez-Figueras [22]
;
Neus,Quilis [23]
;
Maria,Orriols-Caba [24]
;
Ricardo,Gómez de la Torre [25]
;
Maria Cinta,Cid [26]
;
Georgina,Espígol-Frigolé [7]
;
Alba,Alvarez-Abella [7]
;
Eztizen,Labrador [27]
;
Maria,Rozman [28]
;
Monica,Lopez-Guerra [29]
;
Paola,Castillo [30]
;
Jose R,Alamo-Moreno [31]
;
Eva,Gonzalez-Roca [31]
;
Susana,Plaza [4]
;
Virginia,Fabregat [32]
;
Rocio,Lara [32]
;
Esther F,Vicente-Rabaneda [32]
;
Sonia,Tejedor-Vaquero [33]
;
Giuliana,Magri [34]
;
Nuria,Bonet [35]
;
Manuel,Solis-Moruno [36]
;
Andrea,Cerutti [36]
;
Oscar,Fornas [37]
;
Ferran,Casals [38]
;
Jordi,Yagüe [39]
;
Juan I,Aróstegui [40]
作者单位：
Department of Dermatology, Hospital Clínic, Barcelona, Spain.;Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;School of Medicine, Universitat de Barcelona, Barcelona, Spain.
[1]
Department of Internal Medicine, Hospital Mútua de Terrassa, Terrassa, Spain.
[2]
Department of Internal Medicine, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
[3]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;Department of Immunology, Hospital Clínic, Barcelona, Spain.
[4]
Department of Internal Medicine, Hospital Álvaro Cunqueiro, Vigo, Spain.
[5]
Department of Internal Medicine, Hospital Universitario Central de Asturias, Oviedo, Spain.;Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain.
[6]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;School of Medicine, Universitat de Barcelona, Barcelona, Spain.;Department of Autoimmune Diseases, Hospital Clinic de Barcelona, Barcelona, Spain.
[7]
Department of Haematology, Hospital Clínic, Barcelona, Spain.
[8]
Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
[9]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;School of Medicine, Universitat de Barcelona, Barcelona, Spain.;Department of Rheumatology, Hospital Clínic, Barcelona, Spain.
[10]
Department of Rheumatology, Hospital Universitario La Princesa, Madrid, Spain.;Instituto de Investigaciones Sanitarias Princesa (IIS-Princesa), Madrid, Spain.;Cátedra UAM-Roche, EPID-Future, Department of Medicine, School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.
[11]
Department of Internal Medicine, Hospital Universitario Central de Asturias, Oviedo, Spain.
[12]
Department of Internal Medicine, Hospital Universitario de Navarra, Pamplona, Spain.
[13]
Department of Dermatology, Hospital de Bellvitge, Barcelona, Spain.
[14]
Department of Immunology, Hospital General Universitario de Alicante Dr Balmis, Alicante, Spain.;Alicante Institute for Health and Biomedical Research, Alicante, Spain.
[15]
Alicante Institute for Health and Biomedical Research, Alicante, Spain.;Seccion de Reumatologia, Hospital General Universitario de Alicante, Alicante, Spain.;Department of Clinic Medicine, Universidad Miguel Hernandez de Elche, Elche, Spain.
[16]
Department of Internal Medicine, Hospital Valle del Nalón, Langreo, Spain.
[17]
Systemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario Ramón y Cajal
[18]
IRYCIS, Madrid, Spain.
[19]
Department of Dermatology, Althaia Foundation of Manresa, Manresa, Spain.
[20]
Department of Rheumatology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
[21]
Department of Internal Medicine, Hospital Universitari Parc Taulí, Sabadell, Spain.
[22]
Department of Pathology, Hospital Universitari General de Catalunya San Cugat del Valles, Sant Cugat del Valles, Spain.
[23]
Department of Rheumatology, Hospital Universitari de Vinalopo, Elche, Spain.
[24]
Department of Internal Medicine, Hospital comarcal Alt Penedès, Consorci Sanitari Alt Penedès-Garraf, Vilafranca del Penedès, Spain.
[25]
Department of Autoimmune Diseases, Hospital Universitario Central de Asturias, Oviedo, Spain.
[26]
Department of Dermatology, Hospital Mútua de Terrassa, Terrassa, Spain.
[27]
Department of Rheumatology, Hospital San Pedro, Logrono, Spain.
[28]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;School of Medicine, Universitat de Barcelona, Barcelona, Spain.;Department of Haematology, Hospital Clínic, Barcelona, Spain.
[29]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;Department of Pathology, Hospital Clínic, Barcelona, Spain.
[30]
Department of Pathology, Hospital Clínic, Barcelona, Spain.
[31]
Department of Immunology, Hospital Clínic, Barcelona, Spain.
[32]
Department of Rheumatology, Hospital Universitario La Princesa, Madrid, Spain.;Instituto de Investigaciones Sanitarias Princesa (IIS-Princesa), Madrid, Spain.;Department of Medicine, School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.
[33]
Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.
[34]
Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.;Immunology Unit, Department of Biomedical Sciences, Faculty of Medicine and Health Science, University of Barcelona, Barcelona, Spain.
[35]
Genomics Core Facility, Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
[36]
Hospital del Mar Medical Research Institute, PRBB, Barcelona, Spain.;Catalan Institute for Research and Advanced Studies (ICREA), Barcelona, Spain.
[37]
Flow Cytometry Unit, Universitat Pompeu Fabra - Center of Genomic Regulation, Barcelona, Spain.
[38]
Departament de Genètica, Microbiologia i Estadística, Faculty of Biology, University of Barcelona, Barcelona, Spain.;Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Barcelona, Spain.
[39]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.;School of Medicine, Universitat de Barcelona, Barcelona, Spain.;Department of Immunology, Hospital Clínic, Barcelona, Spain.
[40]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain jiaroste@clinic.cat.;School of Medicine, Universitat de Barcelona, Barcelona, Spain.;Department of Immunology, Hospital Clínic, Barcelona, Spain.
[41]
医学主题词
关节炎(Arthritis);铁蛋白质类(Ferritins);女(雌)性(Female);突变(Mutation);人类(Humans);细胞因子类(Cytokines);骨髓增生异常综合征(Myelodysplastic Syndromes);成年人(Adult);皮肤疾病, 遗传性(Skin Diseases, Genetic);男(雄)性(Male);镶嵌现象(Mosaicism);糖皮质激素类(Glucocorticoids)
DOI
10.1136/ard-2023-224460
PMID
37666646
发布时间
2025-02-14
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Annals of the rheumatic diseases
Annals of the rheumatic diseases
1594-1605页
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