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

Autor: Wakamatsu, Manabu, Kojima, Daiei, Muramatsu, Hideki, Okuno, Yusuke, Kataoka, Shinsuke, Nakamura, Fumiko, Sakai, Yoshimi, Tsuge, Ikuya, Ito, Tsuyoshi, Ueda, Kazuto, Saito, Akiko, Morihana, Eiji, Ito, Yasuhiko, Ohashi, Naoki, Tanaka, Makito, Tanaka, Taihei, Kojima, Seiji, Nakajima, Yoko, Ito, Tetsuya, Takahashi, Yoshiyuki
Předmět:
Zdroj: Journal of Clinical Immunology; Nov2022, Vol. 42 Issue 8, p1696-1707, 12p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
Externí odkaz: