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通过新生儿筛查发现的特发性短暂和持续性 T 细胞淋巴细胞减少症婴儿的特征-纽约州的单中心经验。

Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening-a Single-Center Experience in New York State.

机构信息

Division of Allergy & Immunology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY, USA.

Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY, USA.

出版信息

J Clin Immunol. 2021 Apr;41(3):610-620. doi: 10.1007/s10875-020-00957-6. Epub 2021 Jan 7.

DOI:10.1007/s10875-020-00957-6
PMID:33411154
Abstract

PURPOSE

Newborn screening (NBS) quantifies T cell receptor excision circles (TREC) and identifies infants with T cell lymphopenia (TCL). This study elucidates the demographics, laboratory characteristics, genetics, and clinical outcomes following live viral vaccine administration of term infants with transient or persistent idiopathic TCL.

METHODS

A single-center retrospective analysis was performed from September 2010 through June 2018. Laboratory variables were compared with Mann-Whitney tests. Correlations between initial TREC levels and T cell counts were determined by Spearman tests.

RESULTS

Twenty-two transient and 21 persistent TCL infants were identified. Males comprised 68% of the transient and 52% of the persistent TCL cohorts. Whites comprised 23% of the transient and 29% of the persistent cohorts. Median initial TREC levels did not differ (66 vs. 60 TRECs/μL of blood, P = 0.58). The transient cohort had higher median initial CD3 (2135 vs. 1169 cells/μL, P < 0.001), CD4 (1460 vs. 866 cells/μL, P < 0.001), and CD8 (538 vs. 277 cells/μL, P < 0.001) counts. The median age of resolution for the transient cohort was 38 days. Genetic testing revealed 2 genes of interest which warrant further study and several variants of uncertain significance in immunology-related genes in the persistent cohort. 19 transient and 14 persistent subjects received the initial rotavirus and/or MMRV immunization. No adverse reactions to live viral vaccines were reported in either cohort.

CONCLUSION

Transient and persistent TCL infants differ by demographic, laboratory, and clinical characteristics. Select transient and persistent TCL patients may safely receive live attenuated viral vaccines, but larger confirmatory studies are needed.

摘要

目的

新生儿筛查(NBS)定量检测 T 细胞受体切除环(TREC),并识别 T 细胞淋巴细胞减少症(TCL)的婴儿。本研究阐明了足月婴儿在接种活病毒疫苗后,一过性或持续性特发性 TCL 的人口统计学、实验室特征、遗传学和临床结局。

方法

对 2010 年 9 月至 2018 年 6 月期间的一项单中心回顾性分析。采用 Mann-Whitney 检验比较实验室变量。采用 Spearman 检验确定初始 TREC 水平与 T 细胞计数之间的相关性。

结果

共发现 22 例一过性和 21 例持续性 TCL 婴儿。男性占一过性和持续性 TCL 队列的 68%和 52%。白人占一过性和持续性队列的 23%和 29%。初始 TREC 水平中位数无差异(66 与 60 TRECs/μL 血液,P=0.58)。一过性组初始 CD3(2135 与 1169 细胞/μL,P<0.001)、CD4(1460 与 866 细胞/μL,P<0.001)和 CD8(538 与 277 细胞/μL,P<0.001)计数较高。一过性组的缓解中位年龄为 38 天。基因检测显示,持续性组有 2 个有意义的基因和几个免疫相关基因的不确定意义变异,值得进一步研究。19 例一过性和 14 例持续性患儿接受了初始轮状病毒和/或 MMRV 免疫接种。两个队列均未报告活病毒疫苗的不良反应。

结论

一过性和持续性 TCL 婴儿在人口统计学、实验室和临床特征上存在差异。部分一过性和持续性 TCL 患者可能安全地接受活减毒病毒疫苗,但需要更大的确认性研究。

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