A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease.
Hrdlickova B, Mulder CJ, Malamut G et al.
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Abstract
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Approximately 5% of patients with celiac disease (CeD) do not respond to a gluten-free diet and progress to refractory celiac disease (RCD), a severe progression that is characterized by infiltration of intraepithelial T lymphocytes. Patients with RCD type II (RCDII) show clonal expansions of intraepithelial T lymphocytes that result in a poor prognosis and a high mortality rate through development of aggressive enteropathy-associated T-cell lymphoma. It is not known whether genetic variations play a role in severe progression of CeD to RCDII.
38 Dutch ancestry cases, 846 Dutch ancestry controls
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