Stuart G. Tangye

Disease associations for rare immune genetic variants require statistical or rule-based support

Validating weak gene-disease associations requires statistical support from large case-control studies. In contrast, strong (e.g., monogenic) gene-disease associations may be established from relatively few affected individuals, when independent orthogonal evidence converges. Her...

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

Abstract 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 (Afgh...