NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis

ERJ Open Res. 2023 May 9;9(3):00682-2022. doi: 10.1183/23120541.00682-2022. eCollection 2023 May.

Abstract

This is the first case of a 37-year-old female patient carrier of a heterozygous NKX2.1 mutation associated with RA-ILD with a histological pattern of LIP. This case illustrates the wide panel of ILD subtypes associated with NKX2.1 mutations. https://bit.ly/3F49OTS.