Department of Pediatrics and Developmental Biology, Graduate School of Medical Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Front Immunol. 2022 Feb 23;13:786375. doi: 10.3389/fimmu.2022.786375. eCollection 2022.
Severe combined immunodeficiency (SCID) is an inborn error of immunity that occurs in approximately 1 in 50,000 births, mainly due to impaired lymphocyte differentiation. Without curative treatment, such as hematopoietic cell transplantation (HCT) or gene therapy, severe infection in the first year of life could make this condition fatal. The results of HCT are poor when patients have active infections, thus requiring early diagnosis before onset of infection. In five cases of SCID diagnosed in Japan, the oral rotavirus vaccine had been administered before diagnosis. In this study, we demonstrated that the rotavirus from their stools was a vaccine-derived strain. In some cases, severe gastroenteritis triggered the diagnosis of SCID. However, newborn screening for SCID is available before the first rotavirus vaccination using assays for the detection of T-cell receptor excision circles (TRECs). Therefore, to improve the prognosis of patients with SCID in Japan, we should establish a screening system of TRECs for newborns throughout Japan.
严重联合免疫缺陷症(SCID)是一种先天免疫缺陷,在出生时的发病率约为 1/50000,主要是由于淋巴细胞分化受损所致。如果没有造血干细胞移植(HCT)或基因治疗等治愈性治疗,在生命的第一年发生严重感染可能会导致这种情况致命。当患者有活动性感染时,HCT 的结果不佳,因此需要在感染发作前进行早期诊断。在日本诊断出的 5 例 SCID 病例中,在诊断前都曾服用过口服轮状病毒疫苗。在这项研究中,我们证明了来自他们粪便中的轮状病毒是一种疫苗衍生株。在某些情况下,严重的胃肠炎引发了 SCID 的诊断。然而,在第一次接种轮状病毒疫苗之前,可以使用 T 细胞受体切除环(TRECs)检测的检测方法对 SCID 进行新生儿筛查。因此,为了改善日本 SCID 患者的预后,我们应该在全日本建立针对新生儿的 TRECs 筛查系统。