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.