دورية أكاديمية
The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern.
| العنوان: | The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern. |
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| المؤلفون: | Iannone C; Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan. claudia.iannone@unimi.it., Pellico MR; Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan. mariarosa.pellico@unimi.it., Campochiaro C; Vita-Salute San Raffaele University, Milan; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan. campochiaro.corrado@hsr.it., Tescaro L; Department of Clinical Sciences and Community Health, University of Milan; Operative Unit of Pneumology and Semi-Intensive Respiratory Therapy, Respiratory Pathophysiology and Pulmonary Hemodynamics Service, Ospedale San Giuseppe, MultiMedica IRCCS, Milan. lisa.tescaro@unimi.it., Zompatori M; Operative Unit of Radiology, Department of Diagnostic Imaging, MultiMedica IRCCS, Milan; DIMES University Department, University of Bologna. maurizio.zompatori@multimedica.it., Caminati A; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan. antonella.caminati@multimedica.it., Harari S; Department of Clinical Sciences and Community Health, University of Milan; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan. sergio.harari@unimi.it., Caporali R; Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan. roberto.caporali@unimi.it. |
| المصدر: | Reumatismo [Reumatismo] 2024 Jun 24; Vol. 76 (2). Date of Electronic Publication: 2024 Jun 24. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: PagePress Country of Publication: Italy NLM ID: 0401302 Publication Model: Electronic Cited Medium: Internet ISSN: 0048-7449 (Print) Linking ISSN: 00487449 NLM ISO Abbreviation: Reumatismo Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Pavia, Italy : PagePress Original Publication: Milan : Longanesi |
| مواضيع طبية MeSH: | Alveolitis, Extrinsic Allergic*/genetics , Alveolitis, Extrinsic Allergic*/diagnosis , Ubiquitin-Activating Enzymes*/genetics, Humans ; Male ; Aged ; Syndrome ; Vacuoles ; Diagnosis, Differential ; Tomography, X-Ray Computed ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/complications ; Genetic Diseases, X-Linked/diagnosis ; Hereditary Autoinflammatory Diseases/genetics ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/complications ; Mutation ; Lung Diseases, Interstitial/genetics ; Lung Diseases, Interstitial/etiology ; Lung Diseases, Interstitial/diagnostic imaging ; Lung/diagnostic imaging ; Lung/pathology |
| مستخلص: | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes. This case describes a 71-year-old male patient with VEXAS syndrome who presented with refractory lung inflammation with a pattern similar to computed tomography hypersensitivity pneumonitis, a novel finding in VEXAS syndrome. The presented clinical case highlights the protean involvement of the lung in VEXAS syndrome and emphasizes the importance of considering interstitial lung disease in the differential diagnosis. |
| المشرفين على المادة: | 0 (UBA1 protein, human) EC 6.2.1.45 (Ubiquitin-Activating Enzymes) |
| تواريخ الأحداث: | Date Created: 20240625 Date Completed: 20240625 Latest Revision: 20240625 |
| رمز التحديث: | 20240625 |
| DOI: | 10.4081/reumatismo.2024.1611 |
| PMID: | 38916169 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0048-7449 |
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| DOI: | 10.4081/reumatismo.2024.1611 |