An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
复制标题
DOI：
10.1177/0961203316676382
复制
发表时间：
2017-06-01
期刊：
影响因子：
2.6
通讯作者：
Ferraccioli, G.
中科院分区：
文献类型：
--
作者：
Carbonella, A.;Mancano, G.;Ferraccioli, G.
我们描述了第三个家庭在世界上，阿拉伯和土耳其的，显示常染色体隐性自身免疫性疾病（AID），模仿系统性红斑狼疮（SLE），与不寻常的表现，由于纯合子移码变异DNASE1L3。系统性红斑狼疮是一种复杂的艾滋病的特点是多器官参与。确定的遗传风险变异仅占SLE遗传性的15%。罕见的孟德尔形式已被报道，包括DNASE1L3相关的SLE。通过特定的遗传测试，我们在DNASE1L3中鉴定了纯合的2bp缺失c.289_290delAC（NM_004944.2），预测了移码和过早截短（p.Thr97Ilefs*2）。相同的突变以前曾在三个姐妹篇，从近亲出生的父母和低补体血症荨麻疹血管炎综合征（HUVS）的影响。由于大约50%的HUVS患者会发展成SLE，目前尚不清楚它是SLE的亚表型还是一种单独的疾病。
We describe the third family in the world, after Arabian and Turkish ones, displaying an autosomal recessive autoimmune disease (AID), mimicking systemic lupus erythematosus (SLE), with unusual manifestations due to a homozygous frame-shift variant in DNASE1L3. SLE is a complex AID characterized by multiple organ involvement. Genetic risk variants identified account for only 15% of SLE heritability. Rare Mendelian forms have been reported, including DNASE1L3-related SLE. Through specific genetic tests we identified a homozygous 2bp-deletion c.289_290delAC (NM_004944.2) in DNASE1L3, predicting frameshift and premature truncation (p.Thr97Ilefs*2). The same mutation was previously reported in three sisters, born from consanguineous parents and affected with hypocomplementemic urticarial vasculitis syndrome (HUVS). As approximately 50% of individuals affected with HUVS develop SLE, it is still unclear whether it is a SLE sub-phenotype or a separate condition.