Chen Xiangyuan, Fu Fang, Mo Xiaolan, Cheng Suyun, Zeng Huasong
Department of Allergy, Immunology and Rheumatology, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China.
Department Institute of Birth Health and Perinatal Medicine, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China.
Front Pediatr. 2023 Mar 2;11:1001222. doi: 10.3389/fped.2023.1001222. eCollection 2023.
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 (). 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 . 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 variants differed among SIFD patients. Our cases and literature review further expand existing knowledge on the phenotype and variations of SIFD and suggest that the early genomic diagnosis of 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.
伴有B细胞免疫缺陷、周期性发热和发育迟缓的铁粒幼细胞贫血（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（）的双等位基因突变引起。SIFD的主要临床特征为周期性发热、发育迟缓、铁粒幼细胞性或小细胞性贫血以及免疫缺陷。在此，我们报告3例携带复合杂合变体的SIFD病例。患者1和患者2为 siblings；他们表现出周期性发热、关节炎、低免疫球蛋白A、双侧白内障、贫血以及神经发育和发育迟缓。患者3具有反复发热和感染等严重临床特征。她接受了英夫利昔单抗治疗和对症治疗，但无治疗效果。她接受了脐带血干细胞移植，但在移植后17天死于移植后感染和移植后移植物抗宿主病。最后，文献综述显示SIFD患者中的变体有所不同。我们的病例和文献综述进一步扩展了关于SIFD表型和变体的现有知识，并表明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很有价值，这可能对SIFD引起的免疫缺陷和炎症有效。
