Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant

• DOI: 10.3389/fimmu.2022.801832
• Publication Date: 2022-01-20T06:44:18Z
• Authors: Ori Scott; Nigel Sharfe; Harjit Dadi; Linda Vong; Jenny Garkaby; Laura Abrego Fuentes; Jessica Willett P...; Sandra Nelles; Amit Nahum; Chaim M. Roifman
• Keywords: Eosinophilic Esophagitis; Chronic mucocutaneous candidiasis; Immune Dysregulation; Proband

Background STAT1 gain-of-function (GOF) is a primary immune dysregulatory disorder marked by wide infectious predisposition (most notably chronic mucocutaneous Candidiasis), autoimmunity, vascular disease and malignant predisposition. While atopic features have been described in some GOF patients, they are not considered predominant feature of the disease. Additionally, while eosinophilic gastrointestinal infiltration has reported cases, this always context pre-existing oropharyngeal and/or esophageal Candidiasis. Clinical cases Herein, we report 3 members multi-generational family diagnosed with caused novel mutation N-terminal domain, c.194A>C (p.D65A). The proband presented initially long-standing history treatment-refractory esophagitis (EoE) without preceding tract fungal infections, her mother was as well. Conclusion EoE previously associated alterations to STAT6 STAT3 signaling pathways. current expands possible association between JAK/STAT-related disorders EoE, suggesting that could be manifestation GOF, even absence