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

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

Detalles Bibliográficos
Autores principales: Le Guen, Pierre, Borie, Raphael, Legendre, Marie, Dupin, Clairelyne, Dunogeant, Laetitia, Ottaviani, Sébastien, Debray, Marie-Pierre, Cazes, Aurélie, Dieudé, Philippe, Kannengiesser, Caroline, Crestani, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204795/
https://www.ncbi.nlm.nih.gov/pubmed/37228267
http://dx.doi.org/10.1183/23120541.00682-2022
Descripción
Sumario: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