Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.

ABSTRACT:

Background

Population-based neonatal screening using T-cell receptor excision circles (TRECs) identifies infants with profound T lymphopenia, as seen in cases of severe combined immunodeficiency, and in a subgroup of infants with 22q11 deletion syndrome (22q11DS).

Purpose

To investigate the long-term prognostic value of low levels of TRECs in newborns with 22q11DS.

Methods

Subjects with 22q11DS and low TRECs at birth (22q11Low, N=10), matched subjects with 22q11DS and normal TRECs (22q11Normal, N=10), and matched healthy controls (HC, N=10) were identified. At follow-up (median age 16 years), clinical and immunological characterizations, covering lymphocyte subsets, immunoglobulins, TRECs, T-cell receptor repertoires, and relative telomere length (RTL) measurements we

SUBMITTER: Framme JL 

PROVIDER: S-EPMC9016018 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature