DcR3 Mutations in Patients with Juvenile-onset Systemic Lupus Erythematosus Lead to Enhanced Lymphocyte Proliferation

医学 发病机制 自身免疫 错义突变 内科学 免疫学 少年 内分泌学 自身免疫性疾病 淋巴细胞 突变 疾病 基因 生物 遗传学
作者
Chayanin Chokdeemeeboon,Pramuk Ammarinthnukrowh,Siraprapa Tongkobpetch,Chalurmpon Srichomtong,Tawatchai Deekajorndech,Pornpimol Rianthavorn,Pornchai Kingwattanakul,Yingyos Avihingsanon,Helen L. Wright,Piyaporn Akkahat,Voravee P. Hoven,Wanwimon Mekboonsonglarp,Steven W. Edwards,Nattiya Hirankarn,Kanya Suphapeetiporn,Vorasuk Shotelersuk
出处
期刊:The Journal of Rheumatology [The Journal of Rheumatology]
卷期号:40 (8): 1316-1326 被引量:5
标识
DOI:10.3899/jrheum.121285
摘要

Objective. Previous studies suggested a role for the death decoy receptor 3 (DcR3) in the pathogenesis of adult systemic lupus erythematosus (SLE). We investigated the role of DcR3 in juvenile-onset SLE, to identify polymorphisms that might alter the function of this protein. Methods. DcR3 was measured in the serum of 61 patients with juvenile SLE. The coding region of the DcR3 gene was sequenced in 100 juvenile and 103 adult patients with SLE, together with 500 healthy controls. Results. DcR3 was elevated in the serum of juvenile patients with active SLE disease (440.8 ± 169.1 pg/ml), compared to patients with inactive disease (122.6 ± 28.05 pg/ml; p = 0.0014) and controls (69.27 ± 20.23 pg/ml; p = 0.0009). DNA sequencing identified 2 novel missense mutations: c.C167T (p.T56I) in an adult SLE patient and c.C364T (p.H122Y) in a juvenile patient. Recombinant proteins containing these mutations exhibited altered binding kinetics to FasL and they significantly increased lymphocyte proliferation, compared to the wild-type protein (p < 0.05). The adult patient with SLE carrying the p.T56I mutation had significantly increased lymphocyte proliferation compared to 3 SLE controls matched for age, sex, and disease severity. Conclusion. DcR3 may play an etiologic role in SLE through either elevated serum levels of wild-type DcR3 or normal levels of gain-of-function DcR3 proteins that increase lymphocyte proliferation.
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