The field of primary immune deficiency is rapidly growing, now recognizing over 500 monogenic inborn errors of immunity, of which at least 10% result in immune dysregulation. An increasing number of these disorders are caused by mutations in the JAK-STAT signaling pathway, a signaling cascade that is also a frequent therapeutic target in disorders of the immune system and malignancy. To deliver effective diagnostic, treatment, and management decisions, an in-depth understanding of cell-specific aberrations in these pathways is needed. STAT3 gain-of-function (GOF) syndrome is a primary immune regulatory disorder (PIRD) with multi-organ involvement and early onset autoimmunity. The primary scientific goal of the Schmitt Lab is to study the mechanisms contributing to T cell dysregulation in STAT3 GOF syndrome. In complementary studies, we are investigating the impact of STAT3 GOF on antigen presenting cells, antigen-specific responses and mucosal tolerance. Results from these studies have the potential to uncover new biomarkers, targetable cellular pathways, and further insight into disease pathogenesis and human immunology. 

Pediatric Immune Deficiency, Immune dysregulation, autoimmunity 

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