Treatment of uveitis in Blau syndrome: A systematic review and meta-analysis

IF 7.9 1区医学 Q1 IMMUNOLOGY

Journal of autoimmunity Pub Date : 2025-03-26 DOI:10.1016/j.jaut.2025.103401

Ilaria Maccora , Carine Wouters , Carlos D. Rosè , Valerio Maniscalco , Salvatore de Masi , Maria Vincenza Mastrolia , Edoardo Marrani , Ilaria Pagnini , Gabriele Simonini

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引用次数: 0

Abstract

Objectives

Blau syndrome (BS) is a rare autoinflammatory disease caused by gain of function variants in NOD2. Uveitis is one of the triad features with arthritis and dermatitis. Management of uveitis is challenging, and uncontrolled uveitis may lead to blindness. We aim to evaluate the evidence regarding effectiveness of systemic treatments, including conventional Disease Modifying anti-Rheumatic drugs(cDMARDs) and biologic DMARDs(bDMARDs), for the management of uveitis in BS.

Methods

A systematic literature review and meta-analysis was performed according to PRISMA guidelines. Papers were selected if they reported patients with BS and uveitis who received systemic treatment. Papers were selected if reporting efficacy according to Standardization of Uveitis Nomenclature (SUN) criteria.

Results

We identified 1205 papers with 11 selected for systematic review and meta-analysis. Among the 11 selected papers, we identified 88 treatments. Among these, 53 were cDMARDs (36 methotrexate, 7 azathioprine, 5 mycophenolate, 3 thalidomide, 1 tacrolimus and 1 cyclosporine) and 35 bDMARDs (23 adalimumab, 6 infliximab, 4 etanercept, 1 golimumab and 1 canakinumab). The proportion of children showing improvement of uveitis was 20 % (95 % CI 2–46) and 22 % (95 % CI3-47) for cDMARDs and bDMARDs respectively (χ²0.23, p = 0.631). No differences were observed among the administered drugs (χ²7.21, p = 0.706).

Conclusion

The data show that there is not enough evidence to establish a preferred treatment for managing uveitis in BS. Considering the rarity, the potential severity and refractoriness to current treatments of the disease, there is a critical need for better understanding of pathophysiology and expert driven treatment guidelines for of BS-uveitis.

Abstract Image

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Blau综合征葡萄膜炎的治疗：系统回顾和荟萃分析

目的blau综合征（BS）是一种罕见的由NOD2功能变异获得引起的自身炎症性疾病。葡萄膜炎是关节炎和皮炎的三联征之一。葡萄膜炎的治疗具有挑战性，不受控制的葡萄膜炎可能导致失明。我们的目标是评估系统性治疗的有效性证据，包括传统的疾病修饰抗风湿药物（cDMARDs）和生物DMARDs(bDMARDs)，用于治疗BS患者的葡萄膜炎。方法根据PRISMA指南进行系统文献综述和meta分析。报道BS和葡萄膜炎患者接受全身治疗的论文入选。根据葡萄膜炎命名法标准化（SUN）标准选择报告疗效的论文。结果共纳入1205篇论文，其中11篇入选系统评价和荟萃分析。在入选的11篇论文中，我们确定了88种治疗方法。其中，cdmard 53个（甲氨喋呤36个，硫唑嘌呤7个，霉酚酸酯5个，沙利度胺3个，他克莫司1个，环孢素1个），bdmard 35个（阿达木单抗23个，英夫利昔单抗6个，依那西普4个，戈利姆单抗1个，canakinumab 1个）。cDMARDs患儿葡萄膜炎改善的比例为20% (95% CI 2-46)， bDMARDs患儿葡萄膜炎改善的比例为22% (95% CI3-47) （χ20.23, p = 0.631）。各给药组间差异无统计学意义（χ27.21, p = 0.706）。结论没有足够的证据来确定治疗BS患者葡萄膜炎的首选治疗方法。考虑到这种疾病的罕见性、潜在的严重性和目前治疗方法的难治性，迫切需要更好地了解bs -葡萄膜炎的病理生理学和专家驱动的治疗指南。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of autoimmunity 医学-免疫学

CiteScore

27.90

自引率

1.60%

发文量

117

审稿时长

17 days

期刊介绍： The Journal of Autoimmunity serves as the primary publication for research on various facets of autoimmunity. These include topics such as the mechanism of self-recognition, regulation of autoimmune responses, experimental autoimmune diseases, diagnostic tests for autoantibodies, as well as the epidemiology, pathophysiology, and treatment of autoimmune diseases. While the journal covers a wide range of subjects, it emphasizes papers exploring the genetic, molecular biology, and cellular aspects of the field. The Journal of Translational Autoimmunity, on the other hand, is a subsidiary journal of the Journal of Autoimmunity. It focuses specifically on translating scientific discoveries in autoimmunity into clinical applications and practical solutions. By highlighting research that bridges the gap between basic science and clinical practice, the Journal of Translational Autoimmunity aims to advance the understanding and treatment of autoimmune diseases.