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Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden; Department of Pediatrics, Halland Hospital Halmstad, Region Halland, Halmstad, Sweden.
Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children’s Hospital, Leiden University Medical Center, Leiden, Netherlands.
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2022 (English)In: Journal of Clinical Immunology, ISSN 0271-9142, E-ISSN 1573-2592, Vol. 42, p. 618-633Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Springer, 2022. Vol. 42, p. 618-633
Keywords [en]
22q11.2 deletion syndrome, DiGeorge syndrome, long-term outcome, newborn screening, severe combined immunodeficiency, T lymphopenia, TREC
National Category
Immunology in the medical area
Identifiers
URN: urn:nbn:se:umu:diva-192261DOI: 10.1007/s10875-021-01201-5ISI: 000749126700001PubMedID: 35080750Scopus ID: 2-s2.0-85123620385OAI: oai:DiVA.org:umu-192261DiVA, id: diva2:1643946
Funder
Swedish Research Council, 2018-02752Cancerforskningsfonden i Norrland, AMP 20-1000Available from: 2022-03-11 Created: 2022-03-11 Last updated: 2022-07-12Bibliographically approved

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Degerman, SofieHultdin, Magnus

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