TNFRSF11A 变体可导致全身性自身炎症性疾病:12 例患者的病例系列

IF 4.6 2区 医学 Q1 RHEUMATOLOGY
Vasileios Papatheodorou , Charalampos Gerodimos , Antonios Dimitrakopoulos , Efrosini Lada , Maria G Tektonidou , Anastasios Germenis , Petros P Sfikakis , Katerina Laskari
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引用次数: 0

摘要

背景有限的证据表明,编码RANK的TNFRSF11A基因变异可能会导致全身性自身炎症性疾病(SAID)。目的/方法在筛查了26个相关基因的SAID患者队列中估计TNFRSF11A变异的发生率,并描述疾病的表型表达。所有患者都同时携带至少一个其他 SAID 相关基因的变异,其中最常见的是 MEFV(6 名患者),此外还有 TNFRSF1A、NOD2、NLRP3、NLRP7、MVK、IL36RN、RBCK1、PLCG2 和 PSMB8。SAID 发作持续(中位)9 天,表现为高热(91%)、肌痛(75%)、乏力(67%)、血清炎(58%)、关节痛/关节炎(58%)、胃肠道受累(33%)和皮疹(25%),并对皮质类固醇有反应。最常见的初步临床诊断是TNF相关周期性发热综合征(TRAPS),但只有一名患者得到确诊。在两个病例中,MEFV变异的出现支持了非典型家族性地中海热的诊断,而在两个有NOD2变异的患者中,姚氏综合征的诊断被推测为非典型家族性地中海热。结论TNFRSF11A变体在7%的SAID患者中出现,而且总是与其他SAID相关基因变体结合在一起,导致了与TRAPS相似的自身炎症综合征的发生。显然,还需要进行更多的研究来确认 SAID 的新致病途径。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients

TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients

Background

Limited evidence suggests that variants in TNFRSF11A gene, encoding RANK, may contribute to systemic autoinflammatory disease (SAID).

Aim/Methods

To estimate the prevalence of TNFRSF11A variants in a cohort of patients with SAIDs screened for 26 related genes and describe the disease phenotypic expression.

Results

A total of 12 out of 167 patients, 7 males, aged (median) 38 years at disease onset, yielded at least one TNFRSF11A rare variant. All patients carried a coexisting variant in at least one other SAID-related gene, most frequently MEFV (6 patients), but also TNFRSF1A, NOD2, NLRP3, NLRP7, MVK, IL36RN, RBCK1, PLCG2 and PSMB8. SAID episodes lasting (median) 9 days manifested with high grade fever (91%), myalgias (75%), malaise (67%), serositis (58%), arthralgias/arthritis (58%), gastrointestinal involvement (33%), and rash (25%), and responded to corticosteroids. The most common initial clinical diagnosis was TNF-associated periodic fever syndrome (TRAPS), which was, however, confirmed, in only one patient. The emergence of MEFV variations supported the diagnosis of atypical Familial Mediterranean Fever in two cases, whereas the diagnosis of Yao syndrome was speculated in two patients with NOD2 variants. The presence of atypical disease and the inability of defining diagnosis in the remaining 7 patients, supported the possible involvement of TNFRSF11A variants in the phenotypic expression of SAIDs.

Conclusion

TNFRSF11A variants, occurring in 7% of SAID patients always in combination with other SAID-related gene variants, contribute to the development of an autoinflammatory syndrome resembling to TRAPS. Additional studies to confirm novel pathogenic SAID pathways are clearly warranted.

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来源期刊
CiteScore
9.20
自引率
4.00%
发文量
176
审稿时长
46 days
期刊介绍: Seminars in Arthritis and Rheumatism provides access to the highest-quality clinical, therapeutic and translational research about arthritis, rheumatology and musculoskeletal disorders that affect the joints and connective tissue. Each bimonthly issue includes articles giving you the latest diagnostic criteria, consensus statements, systematic reviews and meta-analyses as well as clinical and translational research studies. Read this journal for the latest groundbreaking research and to gain insights from scientists and clinicians on the management and treatment of musculoskeletal and autoimmune rheumatologic diseases. The journal is of interest to rheumatologists, orthopedic surgeons, internal medicine physicians, immunologists and specialists in bone and mineral metabolism.
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