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

Vol. 76 No. 2 (2024)
Submitted: 11 July 2023
Accepted: 24 February 2024
Published: 24 June 2024
VEXAS, interstitial lung disease, hypersensitivity pneumonitis
Abstract Views: 1205
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Authors

C. Iannone
claudia.iannone@unimi.it
https://orcid.org/0009-0005-5686-0127
Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan, Italy.
M.R. Pellico
https://orcid.org/0009-0004-1921-7370
Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan, Italy.
C. Campochiaro
Vita-Salute San Raffaele University, Milan; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan, Italy.
L. Tescaro
https://orcid.org/0009-0008-1990-7223
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, Italy.
M. Zompatori
Operative Unit of Radiology, Department of Diagnostic Imaging, MultiMedica IRCCS, Milan; DIMES University Department, University of Bologna, Italy.
A. Caminati
https://orcid.org/0000-0002-6414-3460
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan, Italy.
S. Harari
Department of Clinical Sciences and Community Health, University of Milan; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan, Italy.
R. Caporali
Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan, Italy.

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.

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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
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