https://doi.org/10.4081/reumatismo.2024.1611
The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern
Submitted: 11 July 2023
Accepted: 24 February 2024
Published: 24 June 2024
Accepted: 24 February 2024
Abstract Views: 946
PDF: 352
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
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.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 2020; 383: 2628-38.
DOI: https://doi.org/10.1056/NEJMoa2026834
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, et al. Adult-onset autoinflammation caused by somatic mutations in UBA1: a Dutch case series of patients with VEXAS. J Allergy Clin Immunol 2022; 149: 432-9.e4.
DOI: https://doi.org/10.1016/j.jaci.2021.05.014
Borie R, Debray MP, Guedon AF, Mekinian A, Terriou L, Lacombe V, et al. Pleuropulmonary manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. Chest 2023; 163: 575-85.
DOI: https://doi.org/10.1016/j.chest.2022.10.011
Kouranloo K, Ashley A, Zhao SS, Dey M. Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review. Rheumatol Int 2023; 43: 1023-32.
DOI: https://doi.org/10.1007/s00296-022-05266-2
Chang TK, Shravage BV, Hayes SD, Powers CM, Simin RT, Wade Harper J, et al. Uba1 functions in Atg7- and Atg3-independent autophagy. Nat Cell Biol 2013; 15: 1067-78.
DOI: https://doi.org/10.1038/ncb2804
Georgin‐Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients. Br J Dermatol 2022; 186: 564-74.
DOI: https://doi.org/10.1111/bjd.20805
How to Cite
Iannone, C., Pellico, M., Campochiaro, C., Tescaro, L., Zompatori, M., Caminati, A., … Caporali, R. (2024). The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern. Reumatismo, 76(2). https://doi.org/10.4081/reumatismo.2024.1611
Copyright (c) 2024 the Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.