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).
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  TRECs quantification can be used as a neonatal mass screening for patients with SCID.
authors.affiliation: Department of Pediatrics, National Defense Medical College, Saitama, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Morinishi
authors.forename: Kohsuke
authors.initials: K
authors.lastname: Imai
authors.forename: Noriko
authors.initials: N
authors.lastname: Nakagawa
authors.forename: Hiroki
authors.initials: H
authors.lastname: Sato
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Horiuchi
authors.forename: Yoshitoshi
authors.initials: Y
authors.lastname: Ohtsuka
authors.forename: Yumi
authors.initials: Y
authors.lastname: Kaneda
authors.forename: Takashi
authors.initials: T
authors.lastname: Taga
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Hisakawa
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Miyaji
authors.forename: Mikiya
authors.initials: M
authors.lastname: Endo
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Oh-Ishi
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Kamachi
authors.forename: Koshi
authors.initials: K
authors.lastname: Akahane
authors.forename: Chie
authors.initials: C
authors.lastname: Kobayashi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Tsuchida
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.forename: Satoru
authors.initials: S
authors.lastname: Kumaki
authors.forename: Keiko
authors.initials: K
authors.lastname: Ishigaki
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshida
authors.forename: Tomonari
authors.initials: T
authors.lastname: Urabe
authors.forename: Norimoto
authors.initials: N
authors.lastname: Kobayashi
authors.forename: Yuri
authors.initials: Y
authors.lastname: Okimoto
authors.forename: Janine
authors.initials: J
authors.lastname: Reichenbach
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Hashii
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Tsuji
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kogawa
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
authors.forename: Masafumi
authors.initials: M
authors.lastname: Yamada
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004260:DNA Repair / Q000235:genetics*; D005240:Feasibility Studies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015997:Neonatal Screening / Q000379:methods*; D011237:Predictive Value of Tests; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D043262:Ribonuclease P / Q000097:blood; D016511:Severe Combined Immunodeficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D011948:Receptors, Antigen, T-Cell; D043262:Ribonuclease P