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Erschienen in:

28.07.2022 | Original Article

TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan

verfasst von: Manabu Wakamatsu, Daiei Kojima, Hideki Muramatsu, Yusuke Okuno, Shinsuke Kataoka, Fumiko Nakamura, Yoshimi Sakai, Ikuya Tsuge, Tsuyoshi Ito, Kazuto Ueda, Akiko Saito, Eiji Morihana, Yasuhiko Ito, Naoki Ohashi, Makito Tanaka, Taihei Tanaka, Seiji Kojima, Yoko Nakajima, Tetsuya Ito, Yoshiyuki Takahashi

Erschienen in: Journal of Clinical Immunology | Ausgabe 8/2022

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Abstract

Purpose

The aim of this study is to evaluate the usefulness of T cell receptor excision circle (TREC) and/or kappa-deleting recombination excision circle (KREC) measurements integrated with diagnostic next-generation sequencing (NGS) analysis using a severe combined immunodeficiency (SCID) newborn screening (NBS) program.

Methods

TREC and/or KREC values were measured in 137,484 newborns between April 2017 and December 2021 using EnLite TREC (n = 80,791) or TREC/KREC kits (n = 56,693). For newborns with positive screening results, diagnostic NGS analysis was performed with a 349-gene panel to detect genetic mutations associated with primary immunodeficiencies (PIDs).

Results

A total of 145 newborns (0.11%) had abnormal TREC and/or KREC values, and a genetic diagnosis was established in 2 patients with SCID (1 in 68,742 newborns) (IL2RG-SCID and reticular dysgenesis) and 10 with non-SCID PIDs with T and/or B cell deficiencies (1 in 13,748 newborns) using NGS analysis. Furthermore, TREC values of 2849 newborns were measured and confirmed the significant correlation between the results of both TREC and TREC/KREC kits (P < 0.001) and naïve T cell counts.

Conclusions

We performed the first large-scale TREC and TREC/KREC NBS programs in Japan. Our NBS programs followed by the diagnostic NGS analysis for newborns with abnormal TREC and/or KREC values are useful for the early identification and rapid molecular evaluation of not only SCID but also different non-SCID PIDs.

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Titel: TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan
verfasst von: Manabu Wakamatsu
Daiei Kojima
Hideki Muramatsu
Yusuke Okuno
Shinsuke Kataoka
Fumiko Nakamura
Yoshimi Sakai
Ikuya Tsuge
Tsuyoshi Ito
Kazuto Ueda
Akiko Saito
Eiji Morihana
Yasuhiko Ito
Naoki Ohashi
Makito Tanaka
Taihei Tanaka
Seiji Kojima
Yoko Nakajima
Tetsuya Ito
Yoshiyuki Takahashi
Publikationsdatum: 28.07.2022
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 8/2022
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-022-01335-0

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TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan