Immunological biomarkers at birth and later risk of celiac disease

TL;DR

This study found no link between immune cell profiles at birth and later development of celiac disease in children.

Contribution

The study is the first to show that early immune markers do not predict childhood-onset celiac disease.

Findings

No associations were found between T- and B-cell markers at birth and celiac disease development.

Median percentages of T and B cells were similar between children with celiac disease and controls.

Results remained consistent across different subgroups like sex, HLA type, and age at diagnosis.

Abstract

The role of immune cell profiles at birth in determining the risk of celiac disease (CD) development is currently unestablished. This study aimed to determine the associations between T- and B-cell profiles at birth and pediatric CD.

This regional cohort study analyzed prospectively collected dried blood spots from 158 children with CD (median 7 years old at CD diagnosis) and two matched comparators each (n = 316). We quantified T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) as measures of thymic and bone marrow output at birth. Moreover, we used epigenetic cell counting to estimate the percentages of lymphocyte subsets: CD3+, CD4+, CD8 + T cells, CD4 + memory T, regulatory T, B, and NK cells.

No associations were found between measured immune cell markers at birth and CD development (all p values > 0.26). The median number of copies was 120 for TRECs (IQR = 92–168) and 136 (IQR = 91–183) for CD patients and comparators, respectively, and for KRECs, it was 69 (IQR = 45–100) for CD patients and 66 for comparators (IQR = 44–93). Across the groups, there were similar median percentages of T cells (CD, 32.6% [IQR = 27.0–43.8%] vs. comparators, 33.9% [IQR = 26.3–45.7%]) and B cells (CD, 25.4% [IQR = 20.3–30.6%] vs. comparators, 24.7% [IQR = 19.9–30.8%]). The ratio of the lymphocyte subset estimates between CD patients and comparators approximated one; all p values were > 0.26. The results were consistent across strata defined by sex, HLA type, and age at diagnosis.

Genetic and epigenetic markers for B cells and T cells in immune cell profiles at birth did not impact susceptibility to childhood-onset CD.

The online version contains supplementary material available at 10.1186/s12876-025-03743-z.

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