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Article

Human inherited CCR2 deficiency underlies progressive polycystic lung disease

28 Dec 2023

Abstract excerpt

We describe a human lung disease caused by autosomal recessive, complete deficiency of the monocyte chemokine receptor C-C motif chemokine receptor 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP), progressive polycystic lung disease, and recurrent infections, including bacillus Calmette Guérin (BCG) disease. The CCR2 variants are homozygous in six patients and...

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PMID: 38157855
DOI: 10.1016/j.cell.2023.11.036

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