Author

C. Soudée

2 papers indexed here

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Open access Oct 2026

Clinical manifestations of patients with STAT1 gain-of-function variants in Mexico

Germline Signal Transducer and Activator of Transcription 1 (STAT1) gain-of-function (GOF) variants enhance cellular responses to IL-27 and type I, II, and III interferons, predisposing to fungal, bacterial, and viral infections and immune dysregulation. Mexican patients with pathogenic STAT1-GOF variants id...

T. Cova-Guzmán, Satoshi Okada, M. Tsumura et al. · Frontiers in Immunology · 0 citations

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. · Journal of Experimental Medi... · 0 citations