C. Seroogy

Disseminated histoplasmosis mimicking autoimmune hepatitis as a trigger of secondary hemophagocytic lymphohistiocytosis in a pediatric patient

Abstract Patients presenting with hemophagocytic lymphohistiocytosis (HLH) are often critically ill, and rapid identification of both HLH and underlying triggers in secondary HLH is essential for successful treatment. We present a case of secondary HLH activated by disseminated histoplasmosis (DH) that mimicked autoimm...

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS.

PURPOSE BRIDGES-NBS is a feasibility study evaluating the integration of genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs). We developed a list of conditions for screening. METHODS We designed inclusion criteria and assembled an initia...

Exploiting KREC: Time for newborn screening and beyond-proceedings from the First International KREC Consortium Meeting.

Impaired regulation by purinergic signaling axis contributes to CD8+ T cell dysregulation in STAT3 gain of function

It is found that in patients with STAT3 GOF, CD8+ T cells exist in an activated state and a dysregulated purinergic signaling axis plays a key role in CD8+ T cell dysregulation in STAT3 GOF and may have implications for other rare monogenic immune disorders and common inflammatory disorders.