Document Detail

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.
MedLine Citation:
PMID:  19628217     Owner:  NLM     Status:  MEDLINE    
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/microg 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.
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
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Publication Detail:
Type:  Controlled Clinical Trial; Journal Article     Date:  2009-07-22
Journal Detail:
Title:  The Journal of pediatrics     Volume:  155     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-11-16     Completed Date:  2010-01-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  829-33     Citation Subset:  AIM; IM    
Department of Pediatrics, National Defense Medical College, Saitama, Japan.
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MeSH Terms
Child, Preschool
DNA Repair / genetics*
Feasibility Studies
Infant, Newborn
Middle Aged
Neonatal Screening / methods*
Predictive Value of Tests
Receptors, Antigen, T-Cell / genetics*
Reverse Transcriptase Polymerase Chain Reaction
Ribonuclease P / blood
Severe Combined Immunodeficiency / blood,  diagnosis*,  genetics*
Young Adult
Reg. No./Substance:
0/Receptors, Antigen, T-Cell; EC P

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