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., ...Daha Fazla

MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL, cilt.55, sa.4, ss.551-559, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 4
  • Basım Tarihi: 2021
  • Doi Numarası: 10.14744/semb.2020.09623
  • Dergi Adı: MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.551-559
  • Anahtar Kelimeler: KREC, newborn screening, non-SCID T-cell lymphopenia, SCID, TREC, SEVERE COMBINED IMMUNODEFICIENCY, DISEASES, TREC, HISTORY, KREC
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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.