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

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. Overall design: Single cell RNA sequencing was done on PBMCs and enriched T cells from the patient sample pre- and two years post- dupilumab treatment, along with one age matched healthy control.