首例由体细胞变异引起的韩国VEXAS综合征病例。 - Suppr

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The First Korean Case of VEXAS Syndrome Caused by a Somatic Variant.

作者信息

Yoon Jihoon G, Lee Seungbok, Kim Sheehyun, Kim Man Jin, Chang Yoon Hwan, Park Jin Kyun, Shin Dong-Yeop, Moon Jangsup

机构信息

Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

出版信息

Ann Lab Med. 2023 Mar 1;43(2):217-220. doi: 10.3343/alm.2023.43.2.217. Epub 2022 Oct 25.

DOI:10.3343/alm.2023.43.2.217

PMID:36281520

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9618899/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff50/9618899/5b5ae059fee0/alm-43-2-217-f1.jpg

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Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan.

Front Immunol. 2022 Jun 13;13:901063. doi: 10.3389/fimmu.2022.901063. eCollection 2022.

Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome.

CMAJ. 2022 Apr 11;194(14):E524-E527. doi: 10.1503/cmaj.211770.

Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease.

Front Immunol. 2022 Jan 20;12:800149. doi: 10.3389/fimmu.2021.800149. eCollection 2021.

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome).

Haematologica. 2022 Apr 1;107(4):1011-1013. doi: 10.3324/haematol.2021.280238.

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 Mar;186(3):564-574. doi: 10.1111/bjd.20805. Epub 2021 Nov 28.

Atypical splice-site mutations causing VEXAS syndrome.

Rheumatology (Oxford). 2021 Dec 1;60(12):e435-e437. doi: 10.1093/rheumatology/keab524.

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease.

N Engl J Med. 2021 Jun 3;384(22):2163. doi: 10.1056/NEJMc2102124.

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.

Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286.

Therapeutic options in VEXAS syndrome: insights from a retrospective series.

Blood. 2021 Jul 1;137(26):3682-3684. doi: 10.1182/blood.2020010177.

Somatic Mutations in and Severe Adult-Onset Autoinflammatory Disease.

N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27.

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The First Korean Case of VEXAS Syndrome Caused by a Somatic Variant.

作者信息

Yoon Jihoon G, Lee Seungbok, Kim Sheehyun, Kim Man Jin, Chang Yoon Hwan, Park Jin Kyun, Shin Dong-Yeop, Moon Jangsup

机构信息

Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

出版信息

Ann Lab Med. 2023 Mar 1;43(2):217-220. doi: 10.3343/alm.2023.43.2.217. Epub 2022 Oct 25.

DOI:10.3343/alm.2023.43.2.217

PMID:36281520

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9618899/

Abstract

摘要

相似文献

The First Korean Case of VEXAS Syndrome Caused by a Somatic Variant.

Ann Lab Med. 2023 Mar 1;43(2):217-220. doi: 10.3343/alm.2023.43.2.217. Epub 2022 Oct 25.

Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.

Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31.

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.

BMC Rheumatol. 2022 Aug 30;6(1):54. doi: 10.1186/s41927-022-00281-z.

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder.

Exp Hematol Oncol. 2021 Mar 19;10(1):23. doi: 10.1186/s40164-021-00217-2.

Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome.

Front Immunol. 2022 Jun 9;13:897722. doi: 10.3389/fimmu.2022.897722. eCollection 2022.

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review.

Mod Rheumatol Case Rep. 2022 Jan 7;6(1):134-139. doi: 10.1093/mrcr/rxab021.

Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome.

Semin Hematol. 2021 Oct;58(4):204-211. doi: 10.1053/j.seminhematol.2021.10.007. Epub 2021 Oct 22.

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.

J Allergy Clin Immunol. 2022 Jan;149(1):432-439.e4. doi: 10.1016/j.jaci.2021.05.014. Epub 2021 May 25.

VEXAS syndrome with cutaneous nodules.

Dermatol Reports. 2021 Dec 28;14(2):9414. doi: 10.4081/dr.2022.9414. eCollection 2022 Jun 16.

UBA1 Variations in Neutrophilic Dermatosis Skin Lesions of Patients With VEXAS Syndrome.

JAMA Dermatol. 2021 Nov 1;157(11):1349-1354. doi: 10.1001/jamadermatol.2021.3344.

引用本文的文献

Neurological manifestations in patients with VEXAS syndrome.

J Neurol. 2025 Feb 1;272(2):181. doi: 10.1007/s00415-025-12902-x.

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

NPJ Genom Med. 2024 Nov 28;9(1):63. doi: 10.1038/s41525-024-00449-1.

VEXAS Syndrome-Diagnostic Clues for the Dermatologist and Gaps in Our Current Understanding: A Narrative Review.

JID Innov. 2023 Oct 29;4(1):100242. doi: 10.1016/j.xjidi.2023.100242. eCollection 2024 Jan.

Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives.

Semin Immunol. 2023 May;67:101761. doi: 10.1016/j.smim.2023.101761. Epub 2023 Apr 14.

本文引用的文献

Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan.

Front Immunol. 2022 Jun 13;13:901063. doi: 10.3389/fimmu.2022.901063. eCollection 2022.

Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome.

CMAJ. 2022 Apr 11;194(14):E524-E527. doi: 10.1503/cmaj.211770.

Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease.

Front Immunol. 2022 Jan 20;12:800149. doi: 10.3389/fimmu.2021.800149. eCollection 2021.

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome).

Haematologica. 2022 Apr 1;107(4):1011-1013. doi: 10.3324/haematol.2021.280238.

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 Mar;186(3):564-574. doi: 10.1111/bjd.20805. Epub 2021 Nov 28.

Atypical splice-site mutations causing VEXAS syndrome.

Rheumatology (Oxford). 2021 Dec 1;60(12):e435-e437. doi: 10.1093/rheumatology/keab524.

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease.

N Engl J Med. 2021 Jun 3;384(22):2163. doi: 10.1056/NEJMc2102124.

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.

Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286.

Therapeutic options in VEXAS syndrome: insights from a retrospective series.

Blood. 2021 Jul 1;137(26):3682-3684. doi: 10.1182/blood.2020010177.

Somatic Mutations in and Severe Adult-Onset Autoinflammatory Disease.

N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27.