title: Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant.
abstract: 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.
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) , Bethesda, MD , USA.
authors.forename: Michael Alexander
authors.initials: MA
authors.lastname: Weinreich
authors.affiliation: Center for Human Immunobiology, Texas Children's Hospital, Baylor College of Medicine , Houston, TX , USA.
authors.forename: Tiphanie P
authors.initials: TP
authors.lastname: Vogel
authors.affiliation: Division of Intramural Research, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) , Bethesda, MD , USA.
authors.forename: V Koneti
authors.initials: VK
authors.lastname: Rao
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) , Bethesda, MD , USA.
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Milner
keywords: STAT3 transcription factor; autoimmune lymphoproliferative syndrome; gain-of-function mutations; human immunology; monogenic autoimmunity