Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey
MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL, vol.55, no.4, pp.551-559, 2021 (ESCI, TRDizin)
- 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.