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

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

Pierre Le Guen  1 , Raphael Borie  1 , Marie Legendre  2 , Clairelyne Dupin  1 , Laetitia Dunogeant  3 , Sébastien Ottaviani  4 , Marie-Pierre Debray  5 , Aurélie Cazes  6 , Philippe Dieudé  4 , Caroline Kannengiesser  7 , Bruno Crestani  1
Affiliations

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

Pierre Le Guen et al. ERJ Open Res. .

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.

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Conflict of interest statement

Conflict of interest: P. Le Guen has nothing to disclose. Conflict of interest: R. Borie has received grants and personal fees from Roche and Boehringer Ingelheim, and personal fees from Savara, outside the submitted work. Conflict of interest: M. Legendre has nothing to disclose. Conflict of interest: C. Dupin has served on an advisory board for, and received a congress invitation and a speaker fee from AstraZeneca; received speaker fees and congress invitations from Boehringer Ingelheim, Chiesi and Novartis; served as a study investigator for, and received a speaker fee and a congress invitation from GSK; served as an advisory board member and received a congress invitation from Sanofi; and received a congress invitation from Roche, all outside the submitted work. Conflict of interest: L. Dunogeant has nothing to disclose. Conflict of interest: S. Ottaviani has nothing to disclose. Conflict of interest: M-P. Debray has received personal fees and nonfinancial support from Boehringer Ingelheim, and nonfinancial support from Roche, outside the submitted work. Conflict of interest: A. Cazes has received personal fees from Roche, Boehringer and AstraZeneca, outside the submitted work. Conflict of interest: P. Dieudé has nothing to disclose. Conflict of interest: C. Kannengiesser has nothing to disclose. Conflict of interest: B. Crestani has received speaker honoraria and support for a congress from AstraZeneca; received grants, speaker honoraria and support for congresses from Boehringer Ingelheim and Roche; received speaker honoraria, honoraria to consultancy and support for a congress from Sanofi; served on an advisory board for Genzyme; and served on an advisory board and received support for a congress from BMS, all outside the submitted work.

Figures

FIGURE 1
FIGURE 1
a) First thoracic computed tomography (CT) scan for diagnosis of rheumatoid arthritis, showing ground-glass opacities and traction bronchiectasis. b) Evolution of thoracic CT scan 6 years later showing extension of ground-glass opacities and thickening of the bronchovascular bundles and small nodules, associated with traction bronchiectasis and honeycombing in the left upper lobe. c) Histology of surgical lung biopsy: diffuse lymphoid infiltrate expanding the pulmonary interstitium and distorting architecture with cysts; haematoxylin, eosin, saffron (HES) stain; scanning magnification; d) ×20 objective. e) Index case (black arrowhead) was diagnosed with the heterozygous p.(Gln317*) mutation. Her daughter has hypothyroidism.
See this image and copyright information in PMC

References

    1. Attarian SJ, Leibel SL, Yang P, et al. . Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC. Pediatr Res 2018; 84: 419–425. doi:10.1038/pr.2018.30 - DOI - PMC - PubMed
    1. Hamvas A, Deterding RR, Wert SE, et al. . Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest 2013; 144: 794–804. doi:10.1378/chest.12-2502 - DOI - PMC - PubMed
    1. Jovien S, Borie R, Doummar D, et al. . Respiratory distress, congenital hypothyroidism and hypotonia in a newborn. Respiration 2016; 92: 188–191. doi:10.1159/000449136 - DOI - PubMed
    1. Iwatani N, Mabe H, Devriendt K, et al. . Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000; 137: 272–276. doi:10.1067/mpd.2000.107111 - DOI - PubMed
    1. Nattes E, Lejeune S, Carsin A, et al. . Heterogeneity of lung disease associated with NK2 homeobox 1 mutations. Respir Med 2017; 129: 16–23. doi:10.1016/j.rmed.2017.05.014 - DOI - PubMed

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