Satoshi Okada

Paternally Inherited DIO3 Loss and Infantile-Onset Central Hypothyroidism: Human Evidence for a Novel Mechanism of Hypothalamic–Pituitary–Thyroid Axis Dysregulation

Background: DIO3 encodes type 3 iodothyronine deiodinase, the major thyroid hormone-inactivating enzyme, and is an imprinted gene with preferential paternal-allele expression demonstrated in human neonatal skin. Dio3 -deficient mice develop neonatal thyrotoxicosis followed by cen...

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...