Ontology highlight
ABSTRACT:
SUBMITTER: Martin-Nalda A
PROVIDER: S-EPMC6900354 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Martin-Nalda Andrea A Cueto-González Anna M AM Argudo-Ramírez Ana A Marin-Soria Jose L JL Martinez-Gallo Monica M Colobran Roger R Plaja Albert A Castells Neus N Riviere Jacques J Tizzano Eduardo F EF Soler-Palacin Pere P
Molecular genetics & genomic medicine 20191030 12
<h4>Background</h4>The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T-cell receptor excision circles (TRECs), a byproduct of correct T-cell development. However, in addition to SCID, other T-cell-deficient phenotypes such as 22q11.2 deletion syndrome 22q11.2 duplication syndrome, CHARGE syndrome, and trisomy 21 are ...[more]