VEXAS syndrome : A new mimicker of idiopathic multicentric Castleman disease
Copyright © 2024. Published by Elsevier Masson SAS..
INTRODUCTION: Idiopathic multicentric castleman disease (iMCD) is a complex and poorly understood pathophysiological entity, which encompasses a variety of conditions and can mimic or be associated with autoimmune/autoinflammatory diseases, making it challenging to diagnose and treat. Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder associated with hematological abnormalities and caused by acquired somatic mutations in the ubiquitin-like modifier activating enzyme 1 gene (UBA1) which shares several common clinical and biological signs with iMCD. In this article, we report a patient with VEXAS syndrome initially presenting as iMCD, questioning the link between these two entities.
CASE DESCRIPTION: We report here a patient initially presenting as iMCD, proved on lymph node histology, which turns out to have a mutation at the splice acceptor site of exon 3 of UBA1 exhibiting VEXAS syndrome with Castleman-like lymph node.
CONCLUSION: This is only the second case of VEXAS syndrome presenting as iMCD. VEXAS syndrome should therefore be considered in the presence of iMCD suspicion, including in cases of compatible histology.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
Joint bone spine - (2024) vom: 05. Apr., Seite 105731 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Philip, Rémi [VerfasserIn] |
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| Links: |
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| Themen: |
Auto-inflammatory disease |
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| Anmerkungen: |
Date Revised 07.04.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1016/j.jbspin.2024.105731 |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM370730992 |
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| 520 | |a Copyright © 2024. Published by Elsevier Masson SAS. | ||
| 520 | |a INTRODUCTION: Idiopathic multicentric castleman disease (iMCD) is a complex and poorly understood pathophysiological entity, which encompasses a variety of conditions and can mimic or be associated with autoimmune/autoinflammatory diseases, making it challenging to diagnose and treat. Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder associated with hematological abnormalities and caused by acquired somatic mutations in the ubiquitin-like modifier activating enzyme 1 gene (UBA1) which shares several common clinical and biological signs with iMCD. In this article, we report a patient with VEXAS syndrome initially presenting as iMCD, questioning the link between these two entities | ||
| 520 | |a CASE DESCRIPTION: We report here a patient initially presenting as iMCD, proved on lymph node histology, which turns out to have a mutation at the splice acceptor site of exon 3 of UBA1 exhibiting VEXAS syndrome with Castleman-like lymph node | ||
| 520 | |a CONCLUSION: This is only the second case of VEXAS syndrome presenting as iMCD. VEXAS syndrome should therefore be considered in the presence of iMCD suspicion, including in cases of compatible histology | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Auto-inflammatory disease | |
| 650 | 4 | |a Idiopathic multicentric Castleman disease | |
| 650 | 4 | |a Multicentric Castleman disease | |
| 650 | 4 | |a VEXAS syndrome | |
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| 700 | 1 | |a Bracquemart, Claire |e verfasserin |4 aut | |
| 700 | 1 | |a Dumont, Anaël |e verfasserin |4 aut | |
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