Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort
Fatih Haşlak, Huseyin Kilic, Sezgin Şahin, Büşra Hotaman, Memnune Nur Çebi, Mehmet Yıldız, Amra Adroviç, Aybüke Gunalp, Elif Kılıç Könte, Esma Aslan, Ümit Gül, Nergis Akay, Yilmaz Zindar, Fitnat Uluğ, Serhat Güler, Ayça Kıykım, Sezin Aydemir, Kenan Barut, Sema Saltık, Haluk C. Cokugras, Özgür Kasapçopur
Abstract
Objective This study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type I interferonopathy. Our secondary goal was to identify the predictors of long-term morbidity or mortality. Methods We included children with genetically confirmed type I interferonopathies, with a follow-up duration of > 1 year. Data were obtained retrospectively from medical records. Results Of the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (range 0.1-13.2 yrs). They were diagnosed at an average age of 6.8 (SD 4.6) years. Aicardi-Goutières syndrome was the most common diagnosis (n = 15, 37.5%). The central nervous system was the most frequently affected system (n = 27, 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least 1 permanent morbidity or died during follow-up; thus, they were included in the poor outcome group. Although younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute-phase reactants were significant in univariate logistic regression analysis, only ICC on magnetic resonance imaging at admission (adjusted odds ratio 19.69, 95% CI 1.08-359.05, P = 0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis. Conclusion For the first time, we evaluated the predictors of poor outcomes in patients with type I interferonopathy with a broad spectrum of subtypes. Further, our study’s unique patient characteristics can provide valuable insights into these extremely rare conditions.