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

Pierre Le Guen Raphael Borie Marie Legendre Clairelyne DupinLaetitia DunogeantSébastien OttavianiMarie-Pierre DebrayAurélie CazesPhilippe Dieude Caroline Kannengiesser Bruno Crestani

Published in: ERJ open research (2023)

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.

Keyphrases

interstitial lung disease
rheumatoid arthritis
systemic sclerosis
disease activity
idiopathic pulmonary fibrosis
ankylosing spondylitis
case report
early onset
systemic lupus erythematosus