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Background: Seronegative celiac disease (CD) poses a diagnostic challenge. Aims: Characterize and identify differences between seronegative and seropositive CD. Patients and methods: Retrospective cohort study examining adult patients diagnosed with CD (1980-2017). Clinical, analytical, histological, genetic and immunophenotypic data were compiled. Seronegative CD was defined as a anti-tissue transglutaminase type 2 IgA and endomysial antibodies (EMA) negative and HLA-DQ2 and/or DQ8 positive, showing clinical signs of CD plus an abnormal duodenal biopsy, and responding to a gluten-free diet (GFD). Factors associated with seronegative CD were identified through binomial logistic regression. Results: Of 315 CD patients, 289 were seropositive (91.7%) and 26 seronegative (8.3%). Among the seronegative patients, higher prevalence was observed for autoimmune thyroiditis (26.9% vs. 9.7%, p  = .016), HLA-DQ8 heterozygosity (23.1% vs. 2.5%, p  ˂ .001) and Marsh I lesion (34.6% vs. 3.7%, p  ˂ .001). The two groups showed similar flow cytometry-determined duodenal immunophenotypes and rates of refractory CD. Conclusions: Seronegative CD differs mostly in genetic (more HLA-DQ8) and histologic (milder atrophy) features as compared with seropositive. Intestinal intraepithelial immunophenotype by flow cytometry, similar in both modalities, is a useful tool to diagnose seronegative CD.

Background: Permanent changes have been found in intraepithelial lymphocyte (IEL) subsets in patients with celiac disease., Objective: The main aim of this study was to demonstrate the utility of determining CD3()/CD7(+) and T cell receptor (TCR) gamma-delta IEL subsets by flow cytometry as a diagnostic marker of adult celiac disease., Patients and Methods: We performed a prospective study in a sample of 128 adult patients (70 with celiac disease and 58 controls). In all patients, distal duodenal biopsy was performed and IEL subsets were determined by flow cytometry., Results: Patients with celiac disease showed an increase in gamma-delta IEL subsets and a decrease in CD3(-)/CD7(+) IEL subsets in comparison with the control group, independently of diet., Conclusions: The results indicate that IEL subset determination by flow cytometry could be useful to confirm diagnosis of celiac disease. IEL subsets should be investigated in diseases other than celiac disease, as well as in patients with potential or latent celiac disease.