National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States of America.
Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Clin Immunol. 2022 Dec;245:109182. doi: 10.1016/j.clim.2022.109182. Epub 2022 Nov 8.
Newborn screening (NBS) for severe combined immunodeficiency (SCID) can identify infants with non-SCID T cell lymphopenia (TCL). The purpose of this study was to characterize the natural history and genetic findings of infants with non-SCID TCL identified on NBS. We analyzed data from 80 infants with non-SCID TCL in the mid-Atlantic region between 2012 and 2019. 66 patients underwent genetic testing and 41 (51%) had identified genetic variant(s). The most common genetic variants were thymic defects (33%), defects with unknown mechanisms (12%) and bone marrow production defects (5%). The genetic cohort had significantly lower median initial CD3+, CD4+, CD8+ and CD4/CD45RA+ T cell counts compared to the non-genetic cohort. Thirty-six (45%) had either viral, bacterial, or fungal infection; only one patient had an opportunistic infection (vaccine strain VZV infection). Twenty-six (31%) of patients had resolution of TCL during the study period.
新生儿筛查（NBS）可用于识别患有严重联合免疫缺陷（SCID）的婴儿。本研究的目的是描述通过 NBS 识别出的非 SCID T 细胞淋巴细胞减少症（TCL）婴儿的自然病史和遗传发现。我们分析了 2012 年至 2019 年间在大西洋中部地区的 80 名患有非 SCID TCL 的婴儿的数据。66 名患者接受了基因检测，其中 41 名（51%）发现了遗传变异。最常见的遗传变异是胸腺缺陷（33%）、机制不明的缺陷（12%）和骨髓生成缺陷（5%）。与非遗传队列相比，遗传队列的初始 CD3+、CD4+、CD8+和 CD4/CD45RA+T 细胞计数中位数明显较低。36 名（45%）患者有病毒、细菌或真菌感染；只有 1 名患者有机会性感染（疫苗株 VZV 感染）。26 名（31%）患者在研究期间 TCL 得到缓解。
