Abstract：
Introduction: Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in immunodeficiency and anemia in various degrees, accompanied by several organ involvement. Case Presentation: We present here a 15-month old male, demonstrated brittle hair, growth hormone deficiency, recurrent fever, arthritis, recurrent infections, mild anemia, and hypogammaglobulinemia. The patient did not respond to colchicine treatment, and after establishing SIFD diagnosis with the presence of homozygote c.948-949delAAinsGG (p.Lys317Glu) mutation in TRNT1 gene, we commenced monthly intravenous immunoglobulin replacement and weekly subcutaneous etanercept. A rapid resolution of fever episodes and infections occurred after initiation of this treatment regimen. Afterward, both anemia and growth parameters have improved during follow-up. Conclusion: SIFD syndrome should be considered in patients with recurrent fever, arthritis, and growth retardation even in the absence of severe anemia and prominent hypogammaglobulinemia.
摘要：
简介：铁粒幼细胞性贫血伴B细胞免疫缺陷，周期性发烧,发育迟缓（SIFD）综合征是由双等位基因TRNT1突变引起的。TRNT1基因编码添加CCA的tRNA核苷酸转移酶。突变的TRNT1导致不同程度的免疫缺陷和贫血，伴有多个器官受累。案例介绍：我们在这里介绍一个15个月大的男性，显示出脆弱的头发，生长激素缺乏,反复发烧,关节炎,反复感染,轻度贫血,和低丙种球蛋白血症.患者对秋水仙碱治疗没有反应，并在纯合子c.948-949delAAinsGG的存在下建立SIFD诊断（p。TRNT1基因的Lys317Glu）突变，我们开始每月静脉注射免疫球蛋白更换和每周皮下注射依那西普.开始该治疗方案后，发烧发作和感染迅速消退。之后,在随访期间,贫血和生长参数均得到改善.结论:反复发热患者应考虑SIFD综合征,关节炎,即使在没有严重贫血和突出的低丙种球蛋白血症的情况下，也会导致生长迟缓。
