Multicystic Interstitial Lung Disease Due to a Novel Biallelic C‐C Chemokine Receptor Type 2 Variant
With a follow-up of up to 25 years, this report expands our understanding of lung disease in CCR2 deficiency and offers another monogenic cause of cystic lung disease. Early genetic diagnosis of affected individuals might allow potentially curative treatment by haematopoietic stem cell transplantation.
Authors
- Christina Rapp (ORCID: https://orcid.org/0000-0002-7371-8158)
- Charlotte Marx (ORCID: https://orcid.org/0009-0005-0992-3543)
- Nagehan Emiralioğlu (ORCID: https://orcid.org/0000-0002-1405-8401)
- Florian Gothe (ORCID: https://orcid.org/0000-0003-0421-6610)
- Bettina Temmesfeld‐Wollbrück (ORCID: https://orcid.org/0000-0003-3930-3538)
- Carlotta A. Rambuscheck
- Alexandru Ionut Gilea (ORCID: https://orcid.org/0000-0002-4103-8385)
- Simon Y. Graeber (ORCID: https://orcid.org/0000-0002-1666-8924)
- Nural Ki̇per (ORCID: https://orcid.org/0000-0003-1261-7393)
- Matthias Griese (ORCID: https://orcid.org/0000-0003-0113-912X)
- Christoph A. Klein (ORCID: https://orcid.org/0000-0001-7128-1725)
- Enrico Baruffini (ORCID: https://orcid.org/0000-0002-8280-7849)
- Simone Reu‐Hofer
- Mirjam Stahl (ORCID: https://orcid.org/0000-0001-6941-8315)
- Ilenia Notaroberto
- Moritz Herkner
- Han Wen
Institutions
- University of Parma (IT)
- National Institutes of Health (US)
- University of Würzburg (DE)
- LMU Klinikum (DE)
- National Heart, Lung, and Blood Institute (US)
- German Center for Lung Research (DE)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- Hacettepe University (TR)
- Charité - Universitätsmedizin Berlin (DE)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Pediatric Pulmonology
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1002/ppul.71135
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Care-for-Rare Foundation
- Deutsche Forschungsgemeinschaft
- Deutsches Zentrum für Lungenforschung