TGFBR1 and Alzheimer disease: In addition to the AD loss-of-function (LOF) STAT3 deficiency, HIES encompasses a range of conditions including AR LOF IL6ST partial deficiency, AD IL6ST partial deficiency, AR IL6ST complete deficiency, AR PGM3 deficiency, AD ERBIN deficiency, AR ZNF341 deficiency, AR IL6R deficiency, AR SPINK5 deficiency, AD TGFBR deficiency (TGFBR1 and TGFBR2) deficiency, and AD CARD11 deficiency (9).