Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant.

ABSTRACT:

Objective

We are presenting two individuals with biallelic C-C chemokine receptor type 2 (CCR2) deficiency carrying the novel c.644C>T p.L215P variant, who presented with chronic respiratory symptoms during infancy and developed multiple diffuse cystic lesions during childhood.

Methods

The patients were diagnosed by means of whole exome sequencing and functional validation of the variant was performed in primary patient cells.

Results

While size and extent of the cysts were stable over years, progressive lung function decline was noted in adolescence and adulthood respectively. The CCR2 p.L215P variant was found to be loss-of-expression and patient monocytes displayed a migration defect upon stimulation with the CCR2 ligand C-C motif ligand 2 (CCL2).

Conclusion

SUBMITTER: Herkner M 

PROVIDER: S-EPMC12117283 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature