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New Research Insights in Cystic Fibrosis and CFTR-Related Diseases

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Guest Editor
School of Pharmacy and Biomolecular Sciences, RCSI University of Medicine and Health Sciences, Dublin, Ireland
Interests: exosomes; cystic fibrosis

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is caused by the congenital loss of function of the CF transmembrane conductance regulator (CFTR), a cAMP-regulated anion channel expressed within the plasma membrane of epithelial cells. Dysregulated CFTR function caused by genetic and/or environmental stresses can contribute to the pathogenesis of various diseases, including chronic obstructive pulmonary disease (COPD) and bronchiectasis. The landscape of CF has changed significantly over the past 30 years since the identification of the CFTR gene and the advent of CFTR-modulating drugs. Current research aims to improve our understanding of disease pathogenesis in the era of CFTR modulation. This includes new insights into the direct and indirect influences of CFTR modulation on the airway milieu, including resident pathogens, inflammation, and inflammatory cell function.

This Special Issue on the “New Research Insights in Cystic Fibrosis and CFTR-Related Diseases” will gather reviews and original articles that provide novel insights into the immune landscape of respiratory disease, as well as report on groundbreaking therapeutic approaches at the basic, translational, and clinical levels.

Papers investigating CFTR-related and other respiratory diseases with inherent signaling defects and pronounced immune responses are welcome, particularly biomolecular and clinical studies providing expert insights into the advances in the respiratory research field.

Dr. Judith A. Coppinger
Guest Editor

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Keywords

  • cystic fibrosis
  • CFTR related diseases
  • COPD
  • immune cells
  • extracellular vesicles
  • neutrophils
  • therapeutics
  • biomarkers

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Published Papers (1 paper)

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Review

15 pages, 857 KiB  
Review
Innate Immunity in Cystic Fibrosis: Varied Effects of CFTR Modulator Therapy on Cell-to-Cell Communication
by Jennifer Hynes, Clifford C. Taggart, Rabindra Tirouvanziam and Judith A. Coppinger
Int. J. Mol. Sci. 2025, 26(6), 2636; https://doi.org/10.3390/ijms26062636 - 14 Mar 2025
Viewed by 629
Abstract
Cystic Fibrosis (CF) is a life-shortening, multi-organ disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Prominent clinical features of CF take place in the lung, hallmarked by cycles of bacterial infection and a dysfunctional inflammatory airway response, leading to [...] Read more.
Cystic Fibrosis (CF) is a life-shortening, multi-organ disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Prominent clinical features of CF take place in the lung, hallmarked by cycles of bacterial infection and a dysfunctional inflammatory airway response, leading to eventual respiratory failure. Bidirectional crosstalk between epithelial cells, leukocytes (e.g., neutrophils, macrophages) and bacteria via release of intra-cellular mediators is key to driving inflammation in CF airways. In recent years, a highly effective combination of therapeutics targeting the CFTR defect have revolutionized treatment in CF. Despite these advancements and due to the complexity of the immune response in the CF airway, the full impact of highly effective modulator therapy (HEMT) on airway inflammation is not fully determined. This review provides the evidence to date on crosstalk mechanisms between host epithelium, leukocytes and bacteria and examines the effect of HEMT on both soluble and membrane-derived immune mediators in clinical samples. The varied effects of HEMT on expression of key proteases, cytokines and extracellular vesicles (EVs) in relation to clinical parameters is assessed. Advances in treatment with HEMT have shown potential in dampening the chronic inflammatory response in CF airways. However, to fully quell inflammation and maximize lung tissue resilience, further interventions may be necessary. Exploring the effects of HEMT on key immune mediators paves the way for identifying new anti-inflammatory approaches targeting host immune cell interactions, such as EV-directed lung therapies. Full article
(This article belongs to the Special Issue New Research Insights in Cystic Fibrosis and CFTR-Related Diseases)
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