Alexandra F. Freeman

This study identifies altered purinergic signaling and CD8+ T cell dysregulation in STAT3 GOF syndrome, showing partial normalization with JAK inhibitors.

This study identifies airway epithelial host defense defects caused by STAT3 mutations in Hyper IgE Syndrome, contributing to chronic pulmonary infection.

This study evaluates genomic diagnostic yield and clinical impact in rare disease patients from the Middle East, finding higher yields with sequencing than microarrays and highlighting diagnostic delays due to limited access.

The paper characterizes antiviral resistance in HSV-1 from a DOCK8-deficient patient using phenotypic and genotypic methods, finding genotypic testing more effective and documenting rapid intrahost HSV-1 evolution.