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Author

Katherine J. L. Jackson

2 papers indexed here

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Open access Sep 2026

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

We previously reported inherited retinoic acid-related orphan receptor γ T (RORγT) deficiency in seven patients from three ancestries (Chilean, Palestinian, and Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afgha...

I. Fagniez, M. Tsumura, A. Guérin et al. · 0 citations
Open access Sep 2026

Single-cell multi-omics maps clonal IEL expansion and epithelial remodelling in refractory coeliac disease

Background Refractory coeliac disease type 1 (RCD1) lacks defining molecular markers, and the immune and epithelial mechanisms sustaining intestinal injury remain poorly understood. Objective To define the clonal immune and epithelial states that distinguish RCD1 from active coeliac disease (ACD) and determine their sp...

Michael Li, Arman Safavi, J. Samir et al. · 0 citations

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