Scientists have uncovered mutated immune cell clones that may explain why some patients with celiac disease continue to suffer despite strict gluten avoidance.
This discovery, made by researchers at the Garvan Institute and UNSW Sydney, sheds light on refractory celiac disease, a severe form where symptoms persist and can lead to serious complications.
Using advanced single-cell sequencing, the team found that abnormal immune cells with genetic mutations accumulate in the gut of affected patients, driving ongoing inflammation, diarrhea, pain, and malnutrition.
These mutated cells share similarities with those in certain lymphomas, suggesting a growth advantage that allows them to survive despite dietary control.
Currently, treatment relies on broad immunosuppression, but these findings open the possibility of targeted therapies. Many mutated cells show alterations in the JAK-STAT pathway, which can potentially be treated with existing JAK inhibitor drugs.
This breakthrough offers a new path for personalized medicine in refractory celiac disease, improving diagnosis and treatment options for patients unresponsive to conventional approaches.
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