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

Frontiers in Pediatrics

Michael Alex¹ 

关键词: STAT3 transcription factor;    gain-of-function mutations;    autoimmune lymphoproliferative syndrome;    monogenic autoimmunity;    human immunology;   

DOI  :  10.3389/fped.2017.00049

学科分类：儿科学

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY