Periodic fever (TRAPS) caused by mutations in the TNFα receptor 1 (TNFRSF1A) gene of three German patients
Periodic fever (TRAPS) caused by mutations in the TNFα receptor 1 (TNFRSF1A) gene of three German patients
复制标题
三名德国患者的 TNFα 受体 1 (TNFRSF1A) 基因突变引起的周期性发热 (TRAPS)
DOI：
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发表时间：
2001
影响因子：
3.1
通讯作者：
J. Roesler
中科院分区：
文献类型：
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作者：
A. Rösen‐Wolff;H. Kreth;S. Hofmann;Katrin Höhne;G. Heubner;Dagmar Möbius;Fritz Zintl;M. Gahr;J. Roesler
摘要：肿瘤坏死因子受体相关周期性综合征（TRAPS）是一种新近认识的疾病，其特征是长时间发作高烧和严重的局部炎症。 TRAPS 是由 55kDa TNF 受体基因 (TNFRSF1A) 显性突变引起的。我们在这里描述了两个家庭的三名德国 TRAPS 患者，分别具有 Cys30→Arg 和 Thr50→Met 突变。这两种突变之前已经在其他不相关的家族中观察到。由 ACG→ATG 转换引起的 Thr50→Met 氨基酸交换在另外两个不同种族背景的家族中已有报道。讨论了 ACG→ATG 序列改变是导致 TRAPS 的突变热点的可能性。此外，我们描述并讨论了患者的症状、发热发作的可能诱因以及患者在诊断未知时所接受的治疗。
Abstract: TNF‐receptor‐associated periodic syndrome (TRAPS) is a recently recognized disorder characterized by prolonged attacks of high fever and severe localized inflammation. TRAPS is caused by dominant mutations in the 55 kDa TNF receptor gene (TNFRSF1A). We here describe three German TRAPS patients of two families with Cys30→Arg and Thr50→Met mutations, respectively. Both mutations have already been observed before in other nonrelated families. The Thr50→Met amino acid exchange, caused by an ACG→ATG transition, has been reported in two other families of different ethnic background. The possibility that the ACG→ATG sequence alteration is a mutational hot spot causing TRAPS is discussed. Furthermore, we describe and discuss the symptoms of our patients, possible inducers of febrile attacks, and treatments which the patients had received when their diagnoses were still unknown.