Open AccessMultiplex PCR-based newborn screening for severe T and B-cell lymphopenia: The first pilot study in Turkey
Author(s) -
Şeyhan Kutluğ
Publication year - 2020
Publication title -
şişli etfal hastanesi tıp bülteni
Language(s) - English
Resource type - Journals
eISSN - 1308-5123
pISSN - 1302-7123
DOI - 10.14744/semb.2020.09623
Subject(s) - newborn screening , severe combined immunodeficiency , medicine , dried blood , multiplex , multiplex polymerase chain reaction , incidence (geometry) , immunology , pediatrics , polymerase chain reaction , biology , genetics , gene , chemistry , physics , chromatography , optics
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 κ-deleting-recombination-excision 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.