Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis

Frontiers in Pediatrics

Pediatrics

Samuel Gagne¹  Shoghik Akoghlanian²  Vidya Sivaraman² 

[1] Division of Pediatric Rheumatology, Nationwide Children’s Hospital, Columbus, OH, United States;Division of Pediatric Rheumatology, Nationwide Children’s Hospital, Columbus, OH, United States;Department of Pediatrics, The Ohio State University, Columbus, OH, United States;

关键词: early-onset;    vasculitis;    vasculopathy;    interferonopathy;    autoinflammatory;    monogenic lupus;   

DOI  :  10.3389/fped.2023.1169638

 received in 2023-02-19, accepted in 2023-07-05,  发布年份 2023

来源: Frontiers

【 摘 要 】

Type I interferonopathies are a broad category of conditions associated with increased type I interferon gene expression and include monogenic autoinflammatory diseases and non-Mendelian autoimmune diseases such as dermatomyositis and systemic lupus erythematosus. While a wide range of clinical presentations among type I interferonopathies exists, these conditions often share several clinical manifestations and implications for treatment. Presenting symptoms may mimic non-Mendelian autoimmune diseases, including vasculitis and systemic lupus erythematosus, leading to delayed or missed diagnosis. This review aims to raise awareness about the varied presentations of monogenic interferonopathies to provide early recognition and appropriate treatment to prevent irreversible damage and improve quality of life and outcomes in this unique patient population.

【 授权许可】

Unknown   
© 2023 Gagne, Sivaraman and Akoghlanian.