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T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.

作者信息

Kinoshita Yuya, Kido Jun, Sawada Takaaki, Sugawara Keishin, Nozaki Fumiko, Mizukami Tomoyuki, Nishimura Madoka, Yoshida Shinichiro, Tsuru Ryutaro, Nakamura Kimitoshi

机构信息

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.

出版信息

Cell Biochem Biophys. 2025 Sep 2. doi: 10.1007/s12013-025-01873-5.

DOI:10.1007/s12013-025-01873-5
PMID:40892369
Abstract
摘要

相似文献

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Cell Biochem Biophys. 2025 Sep 2. doi: 10.1007/s12013-025-01873-5.
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J Clin Immunol. 2022 Nov;42(8):1696-1707. doi: 10.1007/s10875-022-01335-0. Epub 2022 Jul 28.
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Ann Med. 2014 Nov;46(7):555-65. doi: 10.3109/07853890.2014.941920. Epub 2014 Aug 11.
4
Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).一项针对俄罗斯奈梅亨断裂综合征患者队列的前瞻性研究，显示低κ缺失重组切除环（KREC）数量的预测价值及造血干细胞移植（HSCT）的有益效果。
Front Immunol. 2017 Jul 24;8:807. doi: 10.3389/fimmu.2017.00807. eCollection 2017.
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Pol Merkur Lekarski. 2021 Feb 24;49(289):80-83.
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Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.针对严重T细胞和B细胞淋巴细胞减少症的新生儿筛查可识别出一部分患有威斯科特-奥尔德里奇综合征的患者。
Clin Immunol. 2014 Nov;155(1):74-78. doi: 10.1016/j.clim.2014.09.003. Epub 2014 Sep 15.
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A high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity.基于高通量TREC和KREC的严重先天性免疫缺陷新生儿筛查。
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T-cell Receptor and K-deleting Recombination Excision Circles in Newborn Screening of T- and B-cell Defects: Review of the Literature and Future Challenges.用于T细胞和B细胞缺陷新生儿筛查的T细胞受体及K缺失重组切除环：文献综述与未来挑战
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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.采用串联质谱法对干血斑进行检测，诊断由嘌呤核苷磷酸化酶缺陷引起的免疫缺陷。
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本文引用的文献

1
Newborn screening for SCID: the very first prospective pilot study from Türkiye.新生儿 SCID 筛查：来自土耳其的首个前瞻性试点研究。
Front Immunol. 2024 Oct 2;15:1384195. doi: 10.3389/fimmu.2024.1384195. eCollection 2024.
2
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.人类 pre-TCRα 缺乏症的免疫病理学图谱：从罕见到常见变异体。
Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1.
3
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan.
日本黏多糖贮积症II型新生儿筛查中检测到的艾杜糖醛酸-2-硫酸酯酶基因变异频率。
Mol Genet Metab Rep. 2023 Aug 28;37:101003. doi: 10.1016/j.ymgmr.2023.101003. eCollection 2023 Dec.
4
Case report: -related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.病例报告：-相关的早发性 CID 在基于 TREC 的 SCID 筛查中预计会被漏诊，但可以通过测定 KREC 水平来识别。
Front Immunol. 2023 Sep 12;14:1257581. doi: 10.3389/fimmu.2023.1257581. eCollection 2023.
5
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth.脊髓性肌萎缩症的基因治疗在出生后尽早进行时相当有效。
Mol Genet Metab Rep. 2023 Apr 5;35:100973. doi: 10.1016/j.ymgmr.2023.100973. eCollection 2023 Jun.
6
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).德国新生儿重症联合免疫缺陷病的前瞻性筛查：儿科免疫学工作组（API）的首次分析。
J Clin Immunol. 2023 Jul;43(5):965-978. doi: 10.1007/s10875-023-01450-6. Epub 2023 Feb 27.
7
Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study.保加利亚新生儿重症联合免疫缺陷病筛查中TREC/KREC检测方案的实施：一项试点研究。
Cent Eur J Immunol. 2022;47(4):339-349. doi: 10.5114/ceji.2022.124396. Epub 2023 Jan 31.
8
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.严重联合免疫缺陷的诊断：实施 PIDTC 2022 定义。
J Allergy Clin Immunol. 2023 Feb;151(2):547-555.e5. doi: 10.1016/j.jaci.2022.10.021. Epub 2022 Nov 28.
9
Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.新生儿严重联合免疫缺陷症筛查：乌克兰首次 TREC 和 KREC 研究（涉及 10350 名新生儿）结果。
Front Immunol. 2022 Sep 15;13:999664. doi: 10.3389/fimmu.2022.999664. eCollection 2022.
10
Newborn screening for spinal muscular atrophy in Japan: One year of experience.日本脊髓性肌萎缩症的新生儿筛查：一年经验
Mol Genet Metab Rep. 2022 Aug 2;32:100908. doi: 10.1016/j.ymgmr.2022.100908. eCollection 2022 Sep.