PDF(Pubmed)
Abstract：
This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe combined immunodeficiency (SCID). Our patient presented with a clinical picture that suggested a severe inborn error of immunity (IEI). The 6-month-old baby had normal T-cell receptor excision circle (TREC) levels but no measurable level of kappa-deleting recombination excision circles (KRECs) in the NBS sample. A de novo IKZF1-mutation (c.476A>G, p.Asn159Ser) was found. The clinical picture, immunologic workup, and genetic result were consistent with IKZF1-related combined immunodeficiency (CID). Our patient had symptomatic treatment and underwent allogeneic hematopoietic cell transplantation (HCT). IKZF1-related CID is a rare, serious, and early-onset disease; this case provides further insights into the phenotype, including KREC status.
摘要：
该报告说明了在全球范围内用于严重联合免疫缺陷（SCID）的新生儿筛查（NBS）的最常见筛查算法中可能遗漏的病例。我们的患者的临床表现表明严重的先天性免疫错误（IEI）。6个月大的婴儿在NBS样品中具有正常的T细胞受体切除环（TREC）水平，但没有可测量的κ缺失重组切除环（KREC）水平。从头IKZF1突变（c.476A>G，p.Asn159Ser)被发现。临床图片，免疫检查，遗传结果与IKZF1相关的联合免疫缺陷（CID）一致。我们的患者接受了对症治疗，并接受了异基因造血细胞移植（HCT）。IKZF1相关的CID是一种罕见的，严肃,和早发性疾病；这个案例提供了对表型的进一步见解，包括KREC状态。
