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Expanded T cell clones with lymphoma driver somatic mutations in refractory celiac disease

Singh, M.; Louie, R. H.; Samir, J.; Field, M.; Milthorpe, C. M.; Adikari, T.; Mackie, J.; Roper, E.; Faulks, M.; Jackson, K. J.; Calcino, A.; Hardy, M. Y.; Blombery, P.; Amos, T. G.; Deveson, I. W.; Read, S. A.; Shek, D.; Guerin, A.; Ma, C. S.; Tangye, S. G.; Di Sabatino, A.; Lenti, M.; Pasini, A.; Ciccocioppo, R.; Ahlenstiel, G.; Suan, D.; Tye-Din, J. A.; Goodnow, C. C.; Luciani, F.

2024-03-18 allergy and immunology
10.1101/2024.03.17.24304320 medRxiv
Show abstract

Intestinal inflammation continues in a subset of celiac disease (CD) patients despite a gluten-free diet. Here, by applying multiomic single cell analysis to duodenal biopsies, we find low-grade malignancies with lymphoma driver mutations in refractory CD type 2 (RCD2) patients comprise surface CD3 negative (sCD3-) lymphocytes stalled at an innate lymphoid cell (ILC) - progenitor T cell stage undergoing extensive TCR recombination. In people with refractory CD type 1 (RCD1), who currently lack explanation, we discover sCD3+ T cells with lymphoma driver mutations forming large clones displaying inflammatory and cytotoxic molecular profiles in 6 of 10 individuals, and a single small clone in 1 of 4 active recently diagnosed CD cases. Accumulation of driver-mutated T cells and their sCD3-progenitors may explain chronic, non-responsive autoimmunity. One-Sentence SummaryTreatment refractory autoimmunity in celiac disease may be explained by dysregulated T cells and progenitors that have acquired lymphoma-driver mutations.

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