Day-Lewis Megan E, Berbert Laura, DeGrazia Michele, Yee Christina, Fried Ari J, Nguyen Alan A, Hale Jaime E, Counihan Anne, Comeau Anne Marie, Treffeisen Elsa R, Reed Mary Poyner, Platt Craig D, Chou Janet
Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.
Clin Immunol. 2025 Aug;277:110510. doi: 10.1016/j.clim.2025.110510. Epub 2025 Apr 30.
Newborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) identifies patients with other causes of lymphopenia. The risk of opportunistic infection in patients with non-SCID lymphopenia is poorly understood. We aim to describe incidence and risk factors associated with cytomegalovirus (CMV) and Epstein-Barr virus (EBV) infection in patients with low TRECs.
This retrospective study analyzed 289 patients with ≥1 abnormal TREC result.
Nineteen patients had CMV or EBV detected by PCR. Most had resolution of infection (n = 13). Two have chronic viremia, and four expired due to disseminated CMV. Risk factors included undetectable TRECs, consanguinity, family history, low NK, naïve CD4, naïve CD8 cells, and phytohemagglutinin.
Infection with CMV and EBV in patients with low TRECs is rare, however some may benefit from preventative measures. Consideration of risk factors may aid in decision-making and improve outcomes.
使用T细胞受体切除环（TREC）对重症联合免疫缺陷（SCID）进行新生儿筛查可识别出淋巴细胞减少的其他原因患者。非SCID淋巴细胞减少患者发生机会性感染的风险尚不清楚。我们旨在描述低TREC患者中与巨细胞病毒（CMV）和爱泼斯坦-巴尔病毒（EBV）感染相关的发病率和危险因素。
这项回顾性研究分析了289例TREC结果≥1异常的患者。
19例患者通过PCR检测到CMV或EBV。大多数患者感染得到缓解（n = 13）。2例有慢性病毒血症，4例因播散性CMV死亡。危险因素包括未检测到TREC、近亲结婚、家族史、低自然杀伤细胞、初始CD4细胞、初始CD8细胞和植物血凝素。
低TREC患者感染CMV和EBV很少见，但一些患者可能受益于预防措施。考虑危险因素可能有助于决策并改善预后。
