Cargando…

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
_version_ 1785045907190841344
author Le Guen, Pierre
Borie, Raphael
Legendre, Marie
Dupin, Clairelyne
Dunogeant, Laetitia
Ottaviani, Sébastien
Debray, Marie-Pierre
Cazes, Aurélie
Dieudé, Philippe
Kannengiesser, Caroline
Crestani, Bruno
author_facet Le Guen, Pierre
Borie, Raphael
Legendre, Marie
Dupin, Clairelyne
Dunogeant, Laetitia
Ottaviani, Sébastien
Debray, Marie-Pierre
Cazes, Aurélie
Dieudé, Philippe
Kannengiesser, Caroline
Crestani, Bruno
author_sort Le Guen, Pierre
collection PubMed
description 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
format Online
Article
Text
id pubmed-10204795
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher European Respiratory Society
record_format MEDLINE/PubMed
spelling pubmed-102047952023-05-24 NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis Le Guen, Pierre Borie, Raphael Legendre, Marie Dupin, Clairelyne Dunogeant, Laetitia Ottaviani, Sébastien Debray, Marie-Pierre Cazes, Aurélie Dieudé, Philippe Kannengiesser, Caroline Crestani, Bruno ERJ Open Res Research Letters 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 European Respiratory Society 2023-05-09 /pmc/articles/PMC10204795/ /pubmed/37228267 http://dx.doi.org/10.1183/23120541.00682-2022 Text en Copyright ©The authors 2023 https://creativecommons.org/licenses/by-nc/4.0/This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. For commercial reproduction rights and permissions contact permissions@ersnet.org (mailto:permissions@ersnet.org)
spellingShingle Research Letters
Le Guen, Pierre
Borie, Raphael
Legendre, Marie
Dupin, Clairelyne
Dunogeant, Laetitia
Ottaviani, Sébastien
Debray, Marie-Pierre
Cazes, Aurélie
Dieudé, Philippe
Kannengiesser, Caroline
Crestani, Bruno
NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
title NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
title_full NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
title_fullStr NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
title_full_unstemmed NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
title_short NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
title_sort nkx2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
topic Research Letters
url 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
work_keys_str_mv AT leguenpierre nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT borieraphael nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT legendremarie nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT dupinclairelyne nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT dunogeantlaetitia nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT ottavianisebastien nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT debraymariepierre nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT cazesaurelie nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT dieudephilippe nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT kannengiessercaroline nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis
AT crestanibruno nkx21mutationrevealedbyalymphoidinterstitialpneumoniainanadultwithrheumatoidarthritis