AI Article Synopsis
- The study investigates the long-term effects of low T-cell receptor excision circles (TRECs) in infants with 22q11 deletion syndrome (22q11DS), comparing them to those with normal TRECs and healthy controls.
- At a median follow-up age of 16 years, infants with low TRECs showed significant immunologic deficits, such as reduced T-helper and T-regulatory cells, and altered B-cell profiles, indicating a greater risk for immune issues.
- The findings highlight the importance of ongoing monitoring for individuals with low TRECs to address persistent immune dysfunctions associated with 22q11DS.
Article 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 were performed.
Results: At follow-up, the 22q11Low group had lower numbers of naïve T-helper cells, naïve T-regulatory cells, naïve cytotoxic T cells, and persistently lower TRECs compared to healthy controls. Receptor repertoires showed skewed V-gene usage for naïve T-helper cells, whereas for naïve cytotoxic T cells, shorter RTL and a trend towards higher clonality were found. Multivariate discriminant analysis revealed a clear distinction between the three groups and a skewing towards Th17 differentiation of T-helper cells, particularly in the 22q11Low individuals. Perturbations of B-cell subsets were found in both the 22q11Low and 22q11Normal group compared to the HC group, with larger proportions of naïve B cells and lower levels of memory B cells, including switched memory B cells.
Conclusions: This long-term follow-up study shows that 22q11Low individuals have persistent immunologic aberrations and increased risk for immune dysregulation, indicating the necessity of lifelong monitoring.
Clinical Implications: This study elucidates the natural history of childhood immune function in newborns with 22q11DS and low TRECs, which may facilitate the development of programs for long-term monitoring and therapeutic choices.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9016018 | PMC |
| http://dx.doi.org/10.1007/s10875-021-01201-5 | DOI Listing |
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