Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards

被引：92

作者：

Morinishi, Yoichi ^{[1
]}

Imai, Kohsuke ^{[1
,2
]}

Nakagawa, Noriko ^{[1
]}

Sato, Hiroki ^{[2
]}

Horiuchi, Katsuyuki ^{[1
]}

Ohtsuka, Yoshitoshi ^{[3
]}

Kaneda, Yumi ^{[3
]}

Taga, Takashi ^{[4
]}

Hisakawa, Hiroaki ^{[5
]}

Miyaji, Ryosuke ^{[6
]}

Endo, Mikiya ^{[7
]}

Oh-ishi, Tsutomu ^{[8
]}

Kamachi, Yoshiro ^{[9
]}

Akahane, Koshi ^{[10
]}

Kobayashi, Chie ^{[11
]}

Tsuchida, Masahiro ^{[11
]}

Morio, Tomohiro ^{[12
]}

Sasahara, Yoji ^{[13
]}

Kumaki, Satoru ^{[13
]}

Ishigaki, Keiko ^{[14
]}

Yoshida, Makoto ^{[15
]}

Urabe, Tomonari ^{[16
]}

Kobayashi, Norimoto ^{[17
]}

Okimoto, Yuri ^{[18
]}

Reichenbach, Janine ^{[19
]}

Hashii, Yoshiko ^{[20
]}

Tsuji, Yoichiro ^{[1
]}

Kogawa, Kazuhiro ^{[1
]}

Yamaguchi, Seiji ^{[21
]}

Kanegane, Hirokazu ^{[22
]}

Miyawaki, Toshio ^{[22
]}

Yamada, Masafumi ^{[23
]}

Ariga, Tadashi ^{[23
]}

Nonoyama, Shigeaki ^{[1
]}

机构：

[1] Natl Def Med Coll, Dept Pediat, Tokorozawa, Saitama 3598513, Japan

[2] Natl Def Med Coll Hosp, Dept Med Informat, Saitama, Japan

[3] Hyogo Coll Med, Dept Pediat, Kobe, Hyogo, Japan

[4] Shiga Univ Med Sci, Dept Pediat, Otsu, Shiga, Japan

[5] Kochi Univ, Dept Pediat, Kochi 780, Japan

[6] Univ Occupat & Environm Hlth, Dept Pediat, Fukuoka, Japan

[7] Iwate Med Univ, Dept Pediat, Morioka, Iwate, Japan

[8] Saitama Childrens Med Ctr, Div Infect Dis Immunol & Allergy, Saitama, Japan

[9] Nagoya Univ, Dept Pediat, Grad Sch Med, Nagoya, Aichi 4648601, Japan

[10] Yamanashi Prefectural Cent Hosp, Dept Pediat, Kofu, Yamanashi, Japan

[11] Ibaraki Childrens Hosp, Dept Pediat, Ibaraki, Japan

[12] Tokyo Med & Dent Univ, Dept Pediat, Tokyo, Japan

[13] Tohoku Univ, Dept Pediat, Sendai, Miyagi 980, Japan

[14] Tokyo Womens Med Univ, Dept Pediat, Tokyo, Japan

[15] Asahikawa Med Coll, Dept Pediat, Asahikawa, Hokkaido 078, Japan

[16] Kumamoto Univ, Dept Pediat, Kumamoto, Japan

[17] Nagano Childrens Hosp, Dept Interdisciplinary Med, Nagano, Japan

[18] Chiba Childrens Hosp, Dept Hematol Oncol, Chiba, Japan

[19] Univ Childrens Hosp Zurich, Dept Immunol Hematol BMT, Zurich, Switzerland

[20] Osaka Univ, Dept Pediat, Osaka, Japan

[21] Shimane Univ, Dept Pediat, Matsue, Shimane, Japan

[22] Toyama Univ, Dept Pediat, Toyama 930, Japan

[23] Hokkaido Univ, Dept Pediat, Sapporo, Hokkaido 060, Japan

来源：

JOURNAL OF PEDIATRICS | 2009年 / 155卷 / 06期

关键词：

D O I：

10.1016/j.jpeds.2009.05.026

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 10(4) to 10(5) 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.

引用

页码：829 / 833

页数：5

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