AUTHOR=Weinreich Michael Alexander , Vogel Tiphanie P. , Rao V. Koneti , Milner Joshua D. 

TITLE=Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant

JOURNAL=Frontiers in Pediatrics

VOLUME=5

YEAR=2017

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2017.00049

DOI=10.3389/fped.2017.00049

ISSN=2296-2360

ABSTRACT=<p>The number of identified monogenic causes of childhood-onset autoimmunity due to nodal and extranodal lymphoproliferation has increased. These pathogenic genetic variants provide the potential for pathway-specific treatment. Novel variants also require pathway-specific verification. In this report, we describe a 14-year-old patient with a novel variant in STAT3. We report clinical and laboratory findings that support STAT3 p.G419R as a novel pathogenic STAT3 gain-of-function variant.</p>