Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi‐Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornés, , Stuart E. Turvey
This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.
The Journal of Experimental Medicine · Feb 10, 2023Peer-reviewedGenetic & Genomic Medicine