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Abstract：
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine-cytosine-adenosine tRNA nucleotidyltransferase 1 (TRNT1). The main clinical features of SIFD are periodic fevers, developmental delay, sideroblastic or microcytic anemia, and immunodeficiency. Herein, we report three cases of SIFD with compound heterozygous variants of TRNT1. Patients 1 and 2 were siblings; they presented with periodic fevers, arthritis, low immunoglobulin A, bilateral cataracts, anemia, and neurodevelopmental and developmental delay. Patient 3 had severed clinical features with recurrent fever and infections. She was treated with infliximab and symptomatic treatments but without therapeutic effect. She received a stem cell transplantation of umbilical cord blood but died of posttransplant infection and posttransplant graft-vs.-host disease 17 days after transplantation. Finally, a literature review revealed that TRNT1 variants differed among SIFD patients. Our cases and literature review further expand existing knowledge on the phenotype and TRNT1 variations of SIFD and suggest that the early genomic diagnosis of TRNT1 is valuable to promptly assess bone marrow transplantation and tumor necrosis factor inhibitor treatments, which might be effective for the immunodeficiency and inflammation caused by SIFD.
摘要：
铁粒幼细胞性贫血伴B细胞免疫缺陷，周期性发烧,和发育迟缓（SIFD）是一种严重的常染色体隐性综合征，由胞嘧啶-胞嘧啶-腺苷tRNA核苷酸转移酶1（TRNT1）的双等位基因突变引起。SIFD的主要临床特征是周期性发烧，发育迟缓,铁粒成细胞或小红细胞性贫血，和免疫缺陷。在这里，我们报告了3例具有TRNT1复合杂合变体的SIFD。患者1和2是兄弟姐妹；他们表现为周期性发烧，关节炎,低免疫球蛋白A，双侧白内障，贫血,神经发育和发育迟缓。患者3具有反复发热和感染的临床特征。她接受了英夫利昔单抗和对症治疗，但没有治疗效果。她接受了脐带血干细胞移植，但死于移植后感染和移植后移植物移植后17天-宿主病。最后,文献综述显示,TRNT1变异体在SIFD患者中存在差异.我们的病例和文献综述进一步扩大了对SIFD表型和TRNT1变异的现有知识，并表明TRNT1的早期基因组诊断对于及时评估骨髓移植和肿瘤坏死因子抑制剂治疗是有价值的。这可能是有效的免疫缺陷和炎症引起的SIFD。
