Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

We descrie a cohort of 10 families, with 16 patients, that presented with severe early onset allergic disease since birth. Disease inhertance was in an autosomal dominant manner and heterozygous variants in STAT6 were identified in all patients. Whole blood bulk RNAsequencing was done on patient 6 to understand treatment specific transcriptomic changes in this patient. Bulk RNA sequencing was done on Jurkat T cell transduced with Wild-Type STAT6, p.E382Q STAT6, and p.D419G STAT6. These cells were either left untreated or stimulated with IL-4 (100ng/mL) for 4 hours