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Author

M. Tsumura

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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
Case report Open access Sep 2026

Mild Phenotype in Functionally Validated STAT1 Gain-of-Function Disease Due to a Novel DNA-Binding Variant.

Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) disease is associated with chronic mucocutaneous candidiasis, infections, autoimmunity, and immune dysregulation; however, mutation-level determinants of phenotypic variability remain incompletely defined. We aimed to describe the clinica...

B. C. Duran, C. Aytekin, M. Tsumura et al. · 0 citations

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