Genetic Evaluation
While the expanded availability of genetic testing has improved the general identification of chILD diseases, a specific genetic variation has not been implicated in the development of interstitial lung disease in patients with sJIA 9. Two patients had known genetic diagnoses – Trisomy 21 and Kabuki syndrome. Beyond this, genetic testing completed on 7 patients in our cohort identified only variants of uncertain significance. No common genetic change was observed.