VEXAS Syndrome: A Call for Diagnostic Awareness Based on a Case Series of Seven Patients

Filipe R. Pinto; António Lamas; Daniel G. Oliveira; Márcia E. Oliveira; Raquel Faria

doi:10.20344/amp.19687

VEXAS Syndrome: A Call for Diagnostic Awareness Based on a Case Series of Seven Patients

Authors

Filipe R. Pinto *Co-first author. Serviço de Hematologia Clínica. Centro Hospitalar Universitário de Santo António. Porto. https://orcid.org/0000-0002-6177-6633
António Lamas *Co-first author. Serviço de Medicina Interna. Centro Hospitalar Universitário de Santo António. Porto. https://orcid.org/0000-0001-6419-9678
Daniel G. Oliveira Unidade de Imunologia Clínica. Centro Hospitalar Universitário de Santo António. Porto; Immunobiology Group. i3S – Instituto de Investigação e Inovação em Saúde. Universidade do Porto; Unidade Multidisciplinar de Investigação Biomédica. Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto. Porto. https://orcid.org/0000-0002-3561-0250
Márcia E. Oliveira Unidade Multidisciplinar de Investigação Biomédica. Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto. Porto; Unidade de Genética Molecular. Centro de Genética Médica Jacinto de Magalhães. Centro Hospitalar Universitário de Santo António. Porto. https://orcid.org/0000-0003-2437-2004
Raquel Faria Unidade de Imunologia Clínica. Centro Hospitalar Universitário de Santo António. Porto; Unidade Multidisciplinar de Investigação Biomédica. Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto. Porto; Unidade de Genética Molecular. Centro de Genética Médica Jacinto de Magalhães. Centro Hospitalar Universitário de Santo António. Porto. https://orcid.org/0000-0002-2956-1966

DOI:

https://doi.org/10.20344/amp.19687

Keywords:

Inflammation/genetics, Myelodysplastic Syndromes/genetics, Ubiquitin-Activating Enzymes/genetics, VEXAS syndrome

Abstract

N/a.

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References

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

Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5:3203-15. DOI: https://doi.org/10.1182/bloodadvances.2021004976

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

Koster MJ, Kourelis T, Reichard KK, Kermani TA, Beck DB, Cardona DO, et al. Clinical heterogeneity of the VEXAS syndrome: a case series. Mayo Clin Proc. 2021;96:2653-9. DOI: https://doi.org/10.1016/j.mayocp.2021.06.006

Barba T, Jamilloux Y, Durel CA, Bourbon E, Mestrallet F, Sujobert P, et al. VEXAS syndrome in a woman. Rheumatology. 2021;60:e402-3. DOI: https://doi.org/10.1093/rheumatology/keab392

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Published

2023-04-18

How to Cite

R. Pinto F, Lamas A, G. Oliveira D, E. Oliveira M, Faria R. VEXAS Syndrome: A Call for Diagnostic Awareness Based on a Case Series of Seven Patients . Acta Med Port [Internet]. 2023 Apr. 18 [cited 2024 Apr. 16];36(5):379-80. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19687

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Issue

Vol. 36 No. 5 (2023): May

Section

Letters to the Editor

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