ArticleCell2024
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Erratum issuedOpen access · hybridAbstract read
In one paragraph
Article in Cell, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers.
0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
13.2field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 51 citations in OpenAlex.
- Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.The Journal of experimental medicine · 2026Article
- Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.Pediatric pulmonology · 2026Article
- Harnessing intermediate-scale bioreactors for next-generation macrophage production and application.Nature protocols · 2026Review
- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- Host-Pathogen Interactions Leading to Pneumonia Pathogenesis.Clinics in chest medicine · 2026Review
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Sensing of metabolic signals via GPR183 promotes occupation of lung macrophage niches by monocytes.The Journal of experimental medicine · 2026Article
- PRMT6 is required for initiating and amplifying macrophage-induced inflammation in heterotopic ossification by increasing CCL2 expression.Bone research · 2026Article
- Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease.Journal of human immunity · 2026Article
- The OAS-RNase L pathway: Insights from experiments of nature.Science immunology · 2026Review
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Persistent Ascites Revealing Mendelian Susceptibility to Mycobacterial Disease Due to IL-12Rβ1 Deficiency: A Case Report and Review of the Literature.Case reports in immunology · 2026Article
- Unraveling the synergy of inflammation and apoptosis in sepsis-induced acute lung injury: Insights and therapeutic perspectives (Review).Molecular medicine reports · 2026Review
- Artificial neural network-based immune biomarker signature predicts pathological complete response to neoadjuvant chemotherapy in HER2-negative breast cancer.Frontiers in oncology · 2026Article
- A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.Journal of clinical immunology · 2025Article
- Human genetics of Whipple's disease.Current opinion in rheumatology · 2025Review
- Article
- Spectral immune cell profiling reveals modulations in immune cell response to repetitive inhaled organic dust exposure in a high omega-3 fatty acid mouse model.Lipids in health and disease · 2025Article
- Human alveolar macrophage response to Mycobacterium tuberculosis: immune characteristics underlying large inter-individual variability.Communications biology · 2025Article
- Human LY9 governs CD4Science immunology · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
74 authors at 20 institutions in 10 countries.
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France. Electronic address: anna-lena.neehus@childrens.harvard.edu.
Brenna CareyTranslational Pulmonary Science Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH 45267, USA.
Marija LandekicDepartment of Medicine, McGill University, Montreal, QC H3G 0B1, Canada.
Patricia PanikulamMolecular Basis of Altered Immune Homeostasis, INSERM U1163, Paris Cité University, Imagine Institute, Paris 75015, France.
Gail DeutschDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Masato OgishiSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Carlos A Arango-FrancoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
Quentin PhilippotLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Mohammadreza ModaresiPediatric Pulmonary and Sleep Medicine Department, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran; Pediatric Pulmonary Disease and Sleep Medicine Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
Iraj MohammadzadehNon-communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran; USERN Office, Babol University of Medical Sciences, Babol, Iran.
Melissa Corcini BerndtLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Darawan RinchaiSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris 75015, France.
Mana MomenilandiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Marta Martin-FernandezCenter for Inborn Errors of Immunity, Icahn School, New York, NY 10029, USA; Precision Immunology Institute, Icahn School, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School, New York, NY 10029, USA; Department of Pediatrics, Icahn School, New York, NY 10029, USA; Department of Microbiology, Icahn School, New York, NY 10029, USA.
Taushif KhanThe Jackson Laboratory, Farmington, CT 06032, USA.
Jonathan BohlenLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Ji Eun HanSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Alexandre DeslysLeukomotion Laboratory, Paris Cité University, INSERM UMR-S1151, CNRS UMR-S8253, Necker Hospital for Sick Children, Paris 75015, France.
Mathilde BernardLeukomotion Laboratory, Paris Cité University, INSERM UMR-S1151, CNRS UMR-S8253, Necker Hospital for Sick Children, Paris 75015, France; Curie Institute, PSL Research University, CNRS, UMR144, Paris 75248, France; Pierre-Gilles de Gennes Institute, PSL Research University, Paris 75005, France.
Tania Gajardo-CarrascoMolecular Basis of Altered Immune Homeostasis, INSERM U1163, Paris Cité University, Imagine Institute, Paris 75015, France.
Camille SoudéeLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Corentin Le Floc'hLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Yoann SeeleuthnerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Mi-Sun JangDepartment of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover 30625, Germany.
Eirini NikolouliDepartment of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover 30625, Germany.
Simin SeyedpourResearch Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran; Nanomedicine Research Association (NRA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Hugues BegueretDepartment of Pathology, Haut-Lévèque Hospital, CHU Bordeaux, Pessac 33604, France.
Jean-François EmilePathology Department, Ambroise-Paré Hospital, AP-HP, Boulogne 92100, France.
Pierre Le GuenPulmonology Service, Bichat Hospital, AP-HP and Paris Cité University, INSERM U1152, PHERE, Paris 75018, France.
Guido TavazziDepartment of Surgical, Pediatric, and Diagnostic Sciences, University of Pavia, Pavia 27100, Italy; Anesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy.
Costanza Natalia Julia ColomboAnesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy; Experimental Medicine, University of Pavia, Pavia 27100, Italy.
Federico Capra MarzaniAnesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy.
Micol AngeliniNeonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy.
Francesca TrespidiNeonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy.
Stefano GhirardelloNeonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy.
Nasrin AlipourMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg 67081, France; Interdisciplinary Thematic Institute (ITI) of Precision Medicine of Strasbourg, University of Strasbourg, Strasbourg 67081, France.
Anne MolitorMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg 67081, France; Interdisciplinary Thematic Institute (ITI) of Precision Medicine of Strasbourg, University of Strasbourg, Strasbourg 67081, France.
Raphael CarapitoMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg 67081, France; Interdisciplinary Thematic Institute (ITI) of Precision Medicine of Strasbourg, University of Strasbourg, Strasbourg 67081, France; Immunology Laboratory, Biology Technical Platform, Biology Pole, New Civil Hospital, Strasbourg 67091, France.
Mohsen MazloomrezaeiDr. Shahrooei Laboratory, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran.
Hassan Rokni-ZadehDepartment of Medical Biotechnology, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
Majid Changi-AshtianiSchool of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
Chantal BrouzesLaboratory of Onco-Hematology, Necker Hospital for Sick Children, Paris 75015, France.
Pablo VargasLeukomotion Laboratory, Paris Cité University, INSERM UMR-S1151, CNRS UMR-S8253, Necker Hospital for Sick Children, Paris 75015, France; Curie Institute, PSL Research University, CNRS, UMR144, Paris 75248, France; Pierre-Gilles de Gennes Institute, PSL Research University, Paris 75005, France.
Alessandro BorghesiNeonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy; School of Life Sciences, Swiss Federal Institute of Technology, Lausanne 1015, Switzerland.
Nico LachmannDepartment of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover 30625, Germany; REBIRTH - Research Center for Translational Regenerative Medicine, Hannover 30625, Germany; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Hannover 30625, Germany; Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, Hannover 30625, Germany.
Seiamak BahramMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg 67081, France; Interdisciplinary Thematic Institute (ITI) of Precision Medicine of Strasbourg, University of Strasbourg, Strasbourg 67081, France; Immunology Laboratory, Biology Technical Platform, Biology Pole, New Civil Hospital, Strasbourg 67091, France.
Bruno CrestaniPulmonology Service, Bichat Hospital, AP-HP and Paris Cité University, INSERM U1152, PHERE, Paris 75018, France.
Michael FayonDepartment of Pediatrics, Bordeaux Hospital, University of Bordeaux, 33000 Bordeaux, France; Cardiothoracic Research Center, U1045 INSERM, 33000 Bordeaux, France
François GalodeDepartment of Pediatrics, Bordeaux Hospital, University of Bordeaux, 33000 Bordeaux, France; Cardiothoracic Research Center, U1045 INSERM, 33000 Bordeaux, France
Susanta PahariHost-Pathogen Interactions and Population Health programs, Texas Biomedical Research Institute, San Antonio, TX 78227, USA.
Larry S SchlesingerHost-Pathogen Interactions and Population Health programs, Texas Biomedical Research Institute, San Antonio, TX 78227, USA.
Nico MarrDepartment of Human Immunology, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar; Institute of Translational Immunology, Brandenburg Medical School, Brandenburg 14770, Germany.
Dusan BogunovicCenter for Inborn Errors of Immunity, Icahn School, New York, NY 10029, USA; Precision Immunology Institute, Icahn School, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School, New York, NY 10029, USA; Department of Pediatrics, Icahn School, New York, NY 10029, USA; Department of Microbiology, Icahn School, New York, NY 10029, USA.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Raphael BoriePulmonology Service, Bichat Hospital, AP-HP and Paris Cité University, INSERM U1152, PHERE, Paris 75018, France.
Lisa R YoungDivision of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Robin DeterdingPediatric Pulmonary Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.
Mohammad ShahrooeiDr. Shahrooei Laboratory, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran; Clinical and Diagnostic Immunology, KU Leuven, Leuven 3000, Belgium.
Nima RezaeiResearch Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity to Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran; Department of Immunology, Tehran University of Medical Sciences, Tehran, Iran.
Nima ParvanehDepartment of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Daniel CravenDivision of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH 44106, USA.
Philippe GrosDepartment of Microbiology and Immunology, McGill University, Montreal, QC H3A 2B4, Canada; Department of Biochemistry, McGill University, Montreal, QC H3A 2B4, Canada.
Danielle MaloDepartment of Medicine, McGill University, Montreal, QC H3G 0B1, Canada; Department of Human Genetics, McGill University, Montreal, QC H3G 0B1, Canada.
Fernando E SepulvedaMolecular Basis of Altered Immune Homeostasis, INSERM U1163, Paris Cité University, Imagine Institute, Paris 75015, France.
Lawrence M NogeeDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Nathalie AladjidiPediatric Oncology Hematology Unit, Clinical Investigation Center (CIC), Multi-theme-CIC (CICP), University Hospital Bordeaux, Bordeaux 33000, France.
Bruce C TrapnellTranslational Pulmonary Science Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Departments of Medicine and Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH 45267, USA. Electronic address: bruce.trapnell@cchmc.org.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, New York, NY 10065, USA; Department of Pediatrics, Necker Hospital for Sick Children, Paris 75015, France. Electronic address: casanova@mail.rockefeller.edu.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris 75015, France. Electronic address: jacinta.bustamante@inserm.fr.
Inserm · FRDélégation Paris 5 · FRMcGill University · CAMedizinische Hochschule Hannover · DERockefeller University · USUniversal Scientific Education and Research Network · IRChild Health and Development Institute · USCincinnati Children's Hospital Medical Center · USTexas Biomedical Research Institute · USUniversité de Bordeaux · FRUniversity of Pavia · ITAssistance Publique – Hôpitaux de Paris · FRChildren's Hospital Colorado · USChildren's Hospital of Philadelphia · USÉcole Polytechnique Fédérale de Lausanne · CHHamad bin Khalifa University · QAHôpital Cardiologique du Haut-Lévêque · FRHoward Hughes Medical Institute · USInstitute for Research in Fundamental Sciences · IRJackson Laboratory · US
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MPharmacology & ImmunoPathology (PIP) CoreU19AI162568 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI EHRT, SABINE, GLICKMAN, MICHAEL S · 2021 to 2025
$13.0MInterdisciplinary NexGen TB research Advancement Center (IN-TRAC)P30AI168439 · NIAID · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI Larry S. Schlesinger · 2022 to 2026
$6.9MRole of GM-CSF in Myeloid Cell Function and Innate ImmunityR01HL085453 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI TRAPNELL, BRUCE C · 2007 to 2023
$6.5MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MMacrophage nuclear receptors, metabolism and immune effectors during health and M. tuberculosis infection- Diversity SupplementR01AI136831 · NIAID · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI Eusondia A. Arnett, Larry S. Schlesinger · 2019 to 2026
$4.6MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MMidcareer Investigator Award in Patient-Oriented Research in Pediatric Rare Lung DiseasesK24HL143281 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI YOUNG, LISA R. · 2018 to 2022
$540kHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR001866NHLBI NIH HHS K24 HL143281NHLBI NIH HHS R01 HL085453NIAID NIH HHS AI13683NIAID NIH HHS P30 AI168439NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI136831NIAID NIH HHS R37 AI095983NIAID NIH HHS U19 AI162568
Abstract
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 compound heterozygous in three, and all are loss-of-expression and loss-of-function. They abolish CCR2-agonist chemokine C-C motif ligand 2 (CCL-2)-stimulated Ca
Indexed as
Pulmonary Alveolar ProteinosisReceptors, CCR2ChildHumansLungMacrophages, AlveolarReinfectionCCR2 protein, humanReceptors, CCR2chemotaxiscystic lung diseasemacrophagemonocytePAPrecurrent infection
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.