Article

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

2026-07-20

Abstract excerpt

We previously reported inherited RORγT deficiency in seven patients from three ancestries (Chilean, Palestinian, Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afghan, Indian, Iranian, Japanese, Sri Lankan), each homozygous for a new loss-of-function RORC variant. All but one patient — the exception receivin...

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Literature Corpus work: 3be0e461-5606-5914-a196-afe63a22f8a4
DOI: 10.64898/2026.07.18.26358075

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