Bloomfield Markéta, Hlaváčková Eva, Schneiderová Helena, Turnovec Marek, Tichý Lukáš, Čech Zbyněk, Chrastina Petr, Dvořáková Lenka, Pešková Karolína, Formánková Renata, Říha Petr, Vlková Marcela, Bejdák Petr, Havlišová Magdaléna, Froňková Eva, Kalina Tomáš, Bíly Viktor, Říčná Dita, Grombiříková Hana, Sedláček Petr, Litzman Jiří, Freiberger Tomáš, Šedivá Anna, Klocperk Adam
Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.
Department of Clinical Immunology and Allergology, Faculty of Medicine, Masaryk University and St Anne's University Hospital, Brno, Czech Republic.
Pediatr Allergy Immunol. 2025 May;36(5):e70100. doi: 10.1111/pai.70100.
Severe combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T-cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B-cell development disorders, such as X-linked agammaglobulinemia (XLA).
To evaluate the effectiveness of a 2-year pilot SCID NBS program in the Czech Republic, emphasising the utility of combined TREC/KREC screening.
Between January 2022 and December 2023, a dual TREC/KREC NBS pilot was conducted across the Czech Republic, alongside spinal muscular atrophy (SMA) screening. Approximately 200,000 newborns were screened using quantitative real-time PCR on dried blood spots collected 48-72 h after birth.
The pilot referred 58 newborns, identifying 21 cases of IEI, including two SCID cases, with an overall incidence of TREC/KREC screenable IEI of 10.5/100,000 newborns. SCID incidence was 1/100,000. KREC screening proved invaluable, detecting 10 cases of congenital agammaglobulinemia including novel non-XLA forms, which increased the estimated incidence of agammaglobulinemia in the Czech Republic sixfold. Over one-third of low KREC results were linked to maternal immunosuppression.
The Czech pilot demonstrated the effectiveness of integrated TREC/KREC NBS in detecting both T- and B-cell immunodeficiencies. As of 2024, SCID and SMA screening are included in the nationwide NBS, with KREC screening significantly improving early detection of B-cell disorders.
重症联合免疫缺陷（SCID）是一种致命但可治疗的先天性免疫缺陷病（IEI）。全球已采用基于T细胞受体切除环（TREC）的新生儿筛查（NBS），只有极少数国家将kappa重组切除环（KREC）纳入筛查，以检测早期B细胞发育障碍，如X连锁无丙种球蛋白血症（XLA）。
评估捷克共和国一项为期两年的SCID NBS试点项目的有效性，重点关注联合TREC/KREC筛查的效用。
2022年1月至2023年12月期间，在捷克共和国开展了一项TREC/KREC NBS双试点项目，同时进行脊髓性肌萎缩症（SMA）筛查。使用定量实时PCR对出生后48 - 72小时采集的干血斑进行检测，对约200,000名新生儿进行了筛查。
该试点项目转诊了58名新生儿，确诊21例IEI，其中包括2例SCID病例，TREC/KREC可筛查的IEI总体发病率为10.5/100,000新生儿。SCID发病率为1/100,000。KREC筛查证明具有重要价值，检测出10例先天性无丙种球蛋白血症，包括新型非XLA形式，这使捷克共和国无丙种球蛋白血症的估计发病率增加了六倍。超过三分之一的低KREC结果与母亲免疫抑制有关。
捷克的试点项目证明了联合TREC/KREC NBS在检测T细胞和B细胞免疫缺陷方面的有效性。截至2024年，SCID和SMA筛查已纳入全国性NBS，KREC筛查显著改善了B细胞疾病的早期检测。
