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Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus, Anna-Lena; Carey, Brenna; Landekic, Marija; Panikulam, Patricia; Deutsch, Gail; Ogishi, Masato; Arango-Franco, Carlos A; Philippot, Quentin; Modaresi, Mohammadreza; Mohammadzadeh, Iraj; Corcini Berndt, Melissa; Rinchai, Darawan; Le Voyer, Tom; Rosain, Jérémie; Momenilandi, Mana; Martin-Fernandez, Marta; Khan, Taushif; Bohlen, Jonathan; Han, Ji Eun; Deslys, Alexandre; Bernard, Mathilde; Gajardo-Carrasco, Tania; Soudée, Camille; Le Floc'h, Corentin; Migaud, Mélanie; Seeleuthner, Yoann; Jang, Mi-Sun; Nikolouli, Eirini; Seyedpour, Simin; Begueret, Hugues; Emile, Jean-François; Le Guen, Pierre; Tavazzi, Guido; Colombo, Costanza Natalia Julia; Marzani, Federico Capra; Angelini, Micol; Trespidi, Francesca; Ghirardello, Stefano; Alipour, Nasrin; Molitor, Anne; Carapito, Raphael; Mazloomrezaei, Mohsen; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Brouzes, Chantal; Vargas, Pablo; Borghesi, Alessandro; Lachmann, Nico; Bahram, Seiamak; Crestani, Bruno.
Afiliação
  • Neehus AL; Laboratory 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.
  • Carey B; Translational 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.
  • Landekic M; Department of Medicine, McGill University, Montreal, QC H3G 0B1, Canada.
  • Panikulam P; Molecular Basis of Altered Immune Homeostasis, INSERM U1163, Paris Cité University, Imagine Institute, Paris 75015, France.
  • Deutsch G; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
  • Ogishi M; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
  • Arango-Franco CA; Laboratory 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,
  • Philippot Q; Laboratory 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.
  • Modaresi M; Pediatric 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 Univer
  • Mohammadzadeh I; Non-communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran; USERN Office, Babol University of Medical Sciences, Babol, Iran.
  • Corcini Berndt M; Laboratory 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.
  • Rinchai D; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
  • Le Voyer T; Laboratory 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.
  • Rosain J; Laboratory 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,
  • Momenilandi M; Laboratory 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.
  • Martin-Fernandez M; Center 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;
  • Khan T; The Jackson Laboratory, Farmington, CT 06032, USA.
  • Bohlen J; Laboratory 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.
  • Han JE; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
  • Deslys A; Leukomotion Laboratory, Paris Cité University, INSERM UMR-S1151, CNRS UMR-S8253, Necker Hospital for Sick Children, Paris 75015, France.
  • Bernard M; Leukomotion 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.
  • Gajardo-Carrasco T; Molecular Basis of Altered Immune Homeostasis, INSERM U1163, Paris Cité University, Imagine Institute, Paris 75015, France.
  • Soudée C; Laboratory 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.
  • Le Floc'h C; Laboratory 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.
  • Migaud M; Laboratory 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.
  • Seeleuthner Y; Laboratory 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.
  • Jang MS; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover 30625, Germany.
  • Nikolouli E; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover 30625, Germany.
  • Seyedpour S; Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran; Nanomedicine Research Association (NRA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
  • Begueret H; Department of Pathology, Haut-Lévèque Hospital, CHU Bordeaux, Pessac 33604, France.
  • Emile JF; Pathology Department, Ambroise-Paré Hospital, AP-HP, Boulogne 92100, France.
  • Le Guen P; Pulmonology Service, Bichat Hospital, AP-HP and Paris Cité University, INSERM U1152, PHERE, Paris 75018, France.
  • Tavazzi G; Department of Surgical, Pediatric, and Diagnostic Sciences, University of Pavia, Pavia 27100, Italy; Anesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy.
  • Colombo CNJ; Anesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy; Experimental Medicine, University of Pavia, Pavia 27100, Italy.
  • Marzani FC; Anesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy.
  • Angelini M; Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy.
  • Trespidi F; Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy.
  • Ghirardello S; Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy.
  • Alipour N; Molecular 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), Univer
  • Molitor A; Molecular 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), Univer
  • Carapito R; Molecular 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), Univer
  • Mazloomrezaei M; Dr. Shahrooei Laboratory, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran.
  • Rokni-Zadeh H; Department of Medical Biotechnology, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
  • Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
  • Brouzes C; Laboratory of Onco-Hematology, Necker Hospital for Sick Children, Paris 75015, France.
  • Vargas P; Leukomotion 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.
  • Borghesi A; Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy; School of Life Sciences, Swiss Federal Institute of Technology, Lausanne 1015, Switzerland.
  • Lachmann N; Department 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 3062
  • Bahram S; Molecular 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), Univer
  • Crestani B; Pulmonology Service, Bichat Hospital, AP-HP and Paris Cité University, INSERM U1152, PHERE, Paris 75018, France.
Cell ; 187(2): 390-408.e23, 2024 01 18.
Article em En | MEDLINE | ID: mdl-38157855
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 Ca2+ signaling in and migration of monocytic cells. All patients have high blood CCL-2 levels, providing a diagnostic test for screening children with unexplained lung or mycobacterial disease. Blood myeloid and lymphoid subsets and interferon (IFN)-γ- and granulocyte-macrophage colony-stimulating factor (GM-CSF)-mediated immunity are unaffected. CCR2-deficient monocytes and alveolar macrophage-like cells have normal gene expression profiles and functions. By contrast, alveolar macrophage counts are about half. Human complete CCR2 deficiency is a genetic etiology of PAP, polycystic lung disease, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteinose Alveolar Pulmonar / Receptores CCR2 Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteinose Alveolar Pulmonar / Receptores CCR2 Idioma: En Ano de publicação: 2024 Tipo de documento: Article