Artikel ; Online: Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
Journal of clinical immunology
2022 Band 42, Heft 3, Seite(n) 618–633
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 ... ...
| 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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| Mesh-Begriff(e) | 22q11 Deletion Syndrome ; Adolescent ; DNA ; Follow-Up Studies ; Humans ; Infant, Newborn ; Lymphopenia/diagnosis ; Neonatal Screening ; Receptors, Antigen, T-Cell/genetics ; Severe Combined Immunodeficiency/diagnosis | |||||
| Chemische Substanzen | Receptors, Antigen, T-Cell ; DNA (9007-49-2) | |||||
| Sprache | Englisch | |||||
| Erscheinungsdatum | 2022-01-26 | |||||
| Erscheinungsland | Netherlands | |||||
| Dokumenttyp | Journal Article | |||||
| ZDB-ID | 779361-3 | |||||
| ISSN | 1573-2592 ; 0271-9142 | |||||
| ISSN (online) | 1573-2592 | |||||
| ISSN | 0271-9142 | |||||
| DOI | 10.1007/s10875-021-01201-5 | |||||
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| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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