Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards

Yoichi Morinishi; Kohsuke Imai; Noriko Nakagawa; Hiroki Sato; Katsuyuki Horiuchi; Yoshitoshi Ohtsuka; Yumi Kaneda; Takashi Taga; Hiroaki Hisakawa; Ryosuke Miyaji; Mikiya Endo; Tsutomu Oh-Ishi; Yoshiro Kamachi; Koshi Akahane; Chie Kobayashi; Masahiro Tsuchida; Tomohiro Morio; Yoji Sasahara; Satoru Kumaki; Keiko Ishigaki; Makoto Yoshida; Tomonari Urabe; Norimoto Kobayashi; Yuri Okimoto; Janine Reichenbach; Yoshiko Hashii; Yoichiro Tsuji; Kazuhiro Kogawa; Seiji Yamaguchi; Hirokazu Kanegane; Toshio Miyawaki; Masafumi Yamada; Tadashi Ariga; Shigeaki Nonoyama

doi:10.1016/j.jpeds.2009.05.026

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards

Yoichi Morinishi, Kohsuke Imai, Noriko Nakagawa, Hiroki Sato, Katsuyuki Horiuchi, Yoshitoshi Ohtsuka, Yumi Kaneda, Takashi Taga, Hiroaki Hisakawa, Ryosuke Miyaji, Mikiya Endo, Tsutomu Oh-Ishi, Yoshiro Kamachi, Koshi Akahane, Chie Kobayashi, Masahiro Tsuchida, Tomohiro Morio, Yoji Sasahara, Satoru Kumaki, Keiko IshigakiMakoto Yoshida, Tomonari Urabe, Norimoto Kobayashi, Yuri Okimoto, Janine Reichenbach, Yoshiko Hashii, Yoichiro Tsuji, Kazuhiro Kogawa, Seiji Yamaguchi, Hirokazu Kanegane, Toshio Miyawaki, Masafumi Yamada, Tadashi Ariga, Shigeaki Nonoyama

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

97 Citations (Scopus)

Abstract

Objective To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID). Study design Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T cells (n = 3). Results TRECs were detectable in all normal neonatal Guthrie cards (n = 326) at the levels of 104 to 105 copies/mg DNA. In contrast, TRECs were extremely low in all neonatal Guthrie cards (n = 15) and peripheral blood (n = 14) from patients with SCID, including those with maternal T-cell engraftment or leaky T cells with hypomorphic RAG1 mutations or LIG4 deficiency. There were no false-positive or negative results in this study. Conclusion TRECs quantification can be used as a neonatal mass screening for patients with SCID.

Original language	English
Pages (from-to)	829-833
Number of pages	5
Journal	Journal of Pediatrics
Volume	155
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2009.05.026
Publication status	Published - 2009 Dec

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2009.05.026

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Morinishi, Y., Imai, K., Nakagawa, N., Sato, H., Horiuchi, K., Ohtsuka, Y., Kaneda, Y., Taga, T., Hisakawa, H., Miyaji, R., Endo, M., Oh-Ishi, T., Kamachi, Y., Akahane, K., Kobayashi, C., Tsuchida, M., Morio, T., Sasahara, Y., Kumaki, S., ... Nonoyama, S. (2009). Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. Journal of Pediatrics, 155(6), 829-833. https://doi.org/10.1016/j.jpeds.2009.05.026

Morinishi, Y, Imai, K, Nakagawa, N, Sato, H, Horiuchi, K, Ohtsuka, Y, Kaneda, Y, Taga, T, Hisakawa, H, Miyaji, R, Endo, M, Oh-Ishi, T, Kamachi, Y, Akahane, K, Kobayashi, C, Tsuchida, M, Morio, T, Sasahara, Y, Kumaki, S, Ishigaki, K, Yoshida, M, Urabe, T, Kobayashi, N, Okimoto, Y, Reichenbach, J, Hashii, Y, Tsuji, Y, Kogawa, K, Yamaguchi, S, Kanegane, H, Miyawaki, T, Yamada, M, Ariga, T & Nonoyama, S 2009, 'Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards', Journal of Pediatrics, vol. 155, no. 6, pp. 829-833. https://doi.org/10.1016/j.jpeds.2009.05.026

@article{ee95626c5ced431dacfdd7ee393354c7,

title = "Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards",

abstract = "Objective To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID). Study design Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T cells (n = 3). Results TRECs were detectable in all normal neonatal Guthrie cards (n = 326) at the levels of 104 to 105 copies/mg DNA. In contrast, TRECs were extremely low in all neonatal Guthrie cards (n = 15) and peripheral blood (n = 14) from patients with SCID, including those with maternal T-cell engraftment or leaky T cells with hypomorphic RAG1 mutations or LIG4 deficiency. There were no false-positive or negative results in this study. Conclusion TRECs quantification can be used as a neonatal mass screening for patients with SCID.",

author = "Yoichi Morinishi and Kohsuke Imai and Noriko Nakagawa and Hiroki Sato and Katsuyuki Horiuchi and Yoshitoshi Ohtsuka and Yumi Kaneda and Takashi Taga and Hiroaki Hisakawa and Ryosuke Miyaji and Mikiya Endo and Tsutomu Oh-Ishi and Yoshiro Kamachi and Koshi Akahane and Chie Kobayashi and Masahiro Tsuchida and Tomohiro Morio and Yoji Sasahara and Satoru Kumaki and Keiko Ishigaki and Makoto Yoshida and Tomonari Urabe and Norimoto Kobayashi and Yuri Okimoto and Janine Reichenbach and Yoshiko Hashii and Yoichiro Tsuji and Kazuhiro Kogawa and Seiji Yamaguchi and Hirokazu Kanegane and Toshio Miyawaki and Masafumi Yamada and Tadashi Ariga and Shigeaki Nonoyama",

note = "Funding Information: Supported by grants from the Ministry of Defense, Ministry of Health, Labour and Welfare Kawano Masanori Foundation for Promotion of Pediatrics, Jeffrey Modell Foundation, and The Mother and Child Health Foundation. ",

year = "2009",

month = dec,

doi = "10.1016/j.jpeds.2009.05.026",

language = "English",

volume = "155",

pages = "829--833",

journal = "Journal of Pediatrics",

issn = "0022-3476",

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T1 - Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards

AU - Morinishi, Yoichi

AU - Imai, Kohsuke

AU - Nakagawa, Noriko

AU - Sato, Hiroki

AU - Horiuchi, Katsuyuki

AU - Ohtsuka, Yoshitoshi

AU - Kaneda, Yumi

AU - Taga, Takashi

AU - Hisakawa, Hiroaki

AU - Miyaji, Ryosuke

AU - Endo, Mikiya

AU - Oh-Ishi, Tsutomu

AU - Kamachi, Yoshiro

AU - Akahane, Koshi

AU - Kobayashi, Chie

AU - Tsuchida, Masahiro

AU - Morio, Tomohiro

AU - Sasahara, Yoji

AU - Kumaki, Satoru

AU - Ishigaki, Keiko

AU - Yoshida, Makoto

AU - Urabe, Tomonari

AU - Kobayashi, Norimoto

AU - Okimoto, Yuri

AU - Reichenbach, Janine

AU - Hashii, Yoshiko

AU - Tsuji, Yoichiro

AU - Kogawa, Kazuhiro

AU - Yamaguchi, Seiji

AU - Kanegane, Hirokazu

AU - Miyawaki, Toshio

AU - Yamada, Masafumi

AU - Ariga, Tadashi

AU - Nonoyama, Shigeaki

N1 - Funding Information: Supported by grants from the Ministry of Defense, Ministry of Health, Labour and Welfare Kawano Masanori Foundation for Promotion of Pediatrics, Jeffrey Modell Foundation, and The Mother and Child Health Foundation.

PY - 2009/12

Y1 - 2009/12

N2 - Objective To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID). Study design Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T cells (n = 3). Results TRECs were detectable in all normal neonatal Guthrie cards (n = 326) at the levels of 104 to 105 copies/mg DNA. In contrast, TRECs were extremely low in all neonatal Guthrie cards (n = 15) and peripheral blood (n = 14) from patients with SCID, including those with maternal T-cell engraftment or leaky T cells with hypomorphic RAG1 mutations or LIG4 deficiency. There were no false-positive or negative results in this study. Conclusion TRECs quantification can be used as a neonatal mass screening for patients with SCID.

AB - Objective To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID). Study design Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T cells (n = 3). Results TRECs were detectable in all normal neonatal Guthrie cards (n = 326) at the levels of 104 to 105 copies/mg DNA. In contrast, TRECs were extremely low in all neonatal Guthrie cards (n = 15) and peripheral blood (n = 14) from patients with SCID, including those with maternal T-cell engraftment or leaky T cells with hypomorphic RAG1 mutations or LIG4 deficiency. There were no false-positive or negative results in this study. Conclusion TRECs quantification can be used as a neonatal mass screening for patients with SCID.

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AN - SCOPUS:71549170927

SN - 0022-3476

VL - 155

SP - 829

EP - 833

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 6

ER -

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards

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