Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kocaeli University, Umuttepe, 42000 Kocaeli, Turkey.
Clin Rheumatol. 2013 Mar;32 Suppl 1:S83-5. doi: 10.1007/s10067-010-1507-2. Epub 2010 Jun 10.
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited rare autoinflammatory disease. It is caused by mutations in exons 2-3 and 4-5 of the tumor necrosing factor receptor superfamily 1A (TNFRSF1A) gene on chromosome 12p13.2. TNFRSF1A gene encodes the 55-kDa receptor for tumor necrosis factor. Attacks are associated with abdominal pain, myalgia, erythematous skin rash, conjunctivitis, and periorbital edema. Until now, more than 80 mutations have been identified. We herein report three patients with TRAPS of Turkish origin. The patients were followed up in our outpatient clinic in Kocaeli University Division of Rheumatology. Because of their TRAPS associated clinical features, we isolated genomic DNA from whole blood and sequenced the exon 2-3 and 4-5 third exon of TNFRSF1A gene after amplification with appropriate primers. One of the patients with TRAPS was 47-year-old female, who described recurrent attacks of fever, urticarial rash, conjunctivitis, arthralgia, myalgia, abdominal pain, thoracic pain, headache, fatigue, and elevated acute phase response since her childhood. With the sequencing of the TNFRSF1A gene, we identified heterozygous C29R mutation, which has not been reported before in any TRAPS patient. The other patients are her sons with similar findings and age 29 and 26. They were heterozygous for C29R mutation in TNFRSF1A gene too. We report novel C29R mutation in three TRAPS patients of Turkish origin, in which the main clinical features are recurrent fever attacks, erythematous skin rash, conjunctivitis, myalgia, and arthralgia. Treatment with steroids resolved the symptoms and lesions.
肿瘤坏死因子（TNF）受体相关周期性综合征（TRAPS）是一种常染色体显性遗传的罕见自身炎症性疾病。它是由染色体 12p13.2 上肿瘤坏死因子受体超家族 1A（TNFRSF1A）基因的外显子 2-3 和 4-5 突变引起的。TNFRSF1A 基因编码肿瘤坏死因子的 55kDa 受体。发作与腹痛、肌痛、红斑性皮疹、结膜炎和眶周水肿有关。到目前为止，已经发现了 80 多种突变。我们在此报告 3 例土耳其起源的 TRAPS 患者。这些患者在我们在 Kocaeli 大学风湿病学门诊进行了随访。由于他们的 TRAPS 相关临床特征，我们从全血中分离基因组 DNA，并在适当引物扩增后对 TNFRSF1A 基因的外显子 2-3 和 4-5 第三外显子进行测序。其中一位 TRAPS 患者是 47 岁女性，她从小就反复出现发热、荨麻疹、结膜炎、关节痛、肌痛、腹痛、胸痛、头痛、疲劳和急性期反应升高。通过对 TNFRSF1A 基因的测序，我们发现了杂合 C29R 突变，这在以前任何 TRAPS 患者中都没有报道过。另一位患者是她的儿子，年龄分别为 29 岁和 26 岁，他们也在 TNFRSF1A 基因中携带杂合 C29R 突变。我们报告了 3 例土耳其起源的 TRAPS 患者的新型 C29R 突变，其主要临床特征为反复发作的发热性发作、红斑性皮疹、结膜炎、肌痛和关节痛。皮质类固醇治疗可缓解症状和病变。
