Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey

Kutlug S., Karadağ Alpaslan M., Hancioglu G., Ozkan S. E. O., Yesilirmak D. C., Bulut H., ...More

MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL, vol.55, no.4, pp.551-559, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 4
  • Publication Date: 2021
  • Doi Number: 10.14744/semb.2020.09623
  • Journal Name: MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.551-559
  • Keywords: KREC, newborn screening, non-SCID T-cell lymphopenia, SCID, TREC, SEVERE COMBINED IMMUNODEFICIENCY, DISEASES, TREC, HISTORY, KREC
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

Objectives: Severe combined immunodeficiency disease (SCID), non-SCID T-cell lymphopenia, and other primary immunodeficiency diseases with T-cell and B-cell lymphopenia have low the T-cell-receptor-excision circles ( TRECs) and kappa-deleting-recombinationexcision circles (KRECs) levels that can be measured in dried blood spots (DBS) of the newborn. The incidence of SCID and non-SCID T-cell lymphopenia in Western societies has been reported by TREC screening of newborns as 1: 58,000 and 1: 7300, respectively. Since there is no similar study in our country, we aimed to perform the first pilot study of TREC and KREC screening of newborn for SCID and non-SCID T-cell lymphopenia in Turkey.