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Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

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作者: Anna-Lena,Neehus [1] ; Brenna,Carey [2] ; Marija,Landekic [3] ; Patricia,Panikulam [4] ; Gail,Deutsch [5] ; Masato,Ogishi [6] ; Carlos A,Arango-Franco [7] ; Quentin,Philippot [8] ; Mohammadreza,Modaresi [9] ; Iraj,Mohammadzadeh [10] ; Melissa,Corcini Berndt [8] ; Darawan,Rinchai [6] ; Tom,Le Voyer [8] ; Jérémie,Rosain [11] ; Mana,Momenilandi [8] ; Marta,Martin-Fernandez [12] ; Taushif,Khan [13] ; Jonathan,Bohlen [8] ; Ji Eun,Han [6] ; Alexandre,Deslys [14] ; Mathilde,Bernard [15] ; Tania,Gajardo-Carrasco [4] ; Camille,Soudée [8] ; Corentin,Le Floc'h [8] ; Mélanie,Migaud [8] ; Yoann,Seeleuthner [8] ; Mi-Sun,Jang [16] ; Eirini,Nikolouli [16] ; Simin,Seyedpour [17] ; Hugues,Begueret [18] ; Jean-François,Emile [19] ; Pierre,Le Guen [20] ; Guido,Tavazzi [21] ; Costanza Natalia Julia,Colombo [22] ; Federico Capra,Marzani [23] ; Micol,Angelini [24] ; Francesca,Trespidi [24] ; Stefano,Ghirardello [24] ; Nasrin,Alipour [25] ; Anne,Molitor [25] ; Raphael,Carapito [26] ; Mohsen,Mazloomrezaei [27] ; Hassan,Rokni-Zadeh [28] ; Majid,Changi-Ashtiani [29] ; Chantal,Brouzes [30] ; Pablo,Vargas [15] ; Alessandro,Borghesi [31] ; Nico,Lachmann [32] ; Seiamak,Bahram [26] ; Bruno,Crestani [20] ; Michael,Fayon [33] ; François,Galode [33] ; Susanta,Pahari [34] ; Larry S,Schlesinger [34] ; Nico,Marr [35] ; Dusan,Bogunovic [12] ; Stéphanie,Boisson-Dupuis [36] ; Vivien,Béziat [36] ; Laurent,Abel [36] ; Raphael,Borie [20] ; Lisa R,Young [37] ; Robin,Deterding [38] ; Mohammad,Shahrooei [39] ; Nima,Rezaei [40] ; Nima,Parvaneh [41] ; Daniel,Craven [42] ; Philippe,Gros [43] ; Danielle,Malo [44] ; Fernando E,Sepulveda [4] ; Lawrence M,Nogee [45] ; Nathalie,Aladjidi [46] ; Bruce C,Trapnell [47] ; Jean-Laurent,Casanova [48] ; Jacinta,Bustamante [49]
作者单位: 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. [1] 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. [2] Department of Medicine, McGill University, Montreal, QC H3G 0B1, Canada. [3] Molecular Basis of Altered Immune Homeostasis, INSERM U1163, Paris Cité University, Imagine Institute, Paris 75015, France. [4] Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA. [5] St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA. [6] 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, University of Antioquia, Medellín, Colombia. [7] 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. [8] 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 University of Medical Science, Tehran, Iran. [9] 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. [10] 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, France. [11] 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; Department of Microbiology, Icahn School, New York, NY 10029, USA. [12] The Jackson Laboratory, Farmington, CT 06032, USA. [13] Leukomotion Laboratory, Paris Cité University, INSERM UMR-S1151, CNRS UMR-S8253, Necker Hospital for Sick Children, Paris 75015, France. [14] 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. [15] Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover 30625, Germany. [16] Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran; Nanomedicine Research Association (NRA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. [17] Department of Pathology, Haut-Lévèque Hospital, CHU Bordeaux, Pessac 33604, France. [18] Pathology Department, Ambroise-Paré Hospital, AP-HP, Boulogne 92100, France. [19] Pulmonology Service, Bichat Hospital, AP-HP and Paris Cité University, INSERM U1152, PHERE, Paris 75018, France. [20] Department of Surgical, Pediatric, and Diagnostic Sciences, University of Pavia, Pavia 27100, Italy; Anesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy. [21] Anesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy; Experimental Medicine, University of Pavia, Pavia 27100, Italy. [22] Anesthesia and Intensive Care, San Matteo Research Hospital, Pavia 27100, Italy. [23] Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy. [24] 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), University of Strasbourg, Strasbourg 67081, France; Interdisciplinary Thematic Institute (ITI) of Precision Medicine of Strasbourg, University of Strasbourg, Strasbourg 67081, France. [25] 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), 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. [26] Dr. Shahrooei Laboratory, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran. [27] Department of Medical Biotechnology, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. [28] School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran. [29] Laboratory of Onco-Hematology, Necker Hospital for Sick Children, Paris 75015, France. [30] Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia 27100, Italy; School of Life Sciences, Swiss Federal Institute of Technology, Lausanne 1015, Switzerland. [31] 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 30625, Germany; Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, Hannover 30625, Germany. [32] Department of Pediatrics, Bordeaux Hospital, University of Bordeaux, 33000 Bordeaux, France; Cardiothoracic Research Center, U1045 INSERM, 33000 Bordeaux, France [33] Host-Pathogen Interactions and Population Health programs, Texas Biomedical Research Institute, San Antonio, TX 78227, USA. [34] Department 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. [35] 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; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA. [36] Division of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. [37] Pediatric Pulmonary Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA. [38] Dr. Shahrooei Laboratory, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran; Clinical and Diagnostic Immunology, KU Leuven, Leuven 3000, Belgium. [39] Research 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. [40] Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran. [41] Division of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH 44106, USA. [42] Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 2B4, Canada; Department of Biochemistry, McGill University, Montreal, QC H3A 2B4, Canada. [43] Department of Medicine, McGill University, Montreal, QC H3G 0B1, Canada; Department of Human Genetics, McGill University, Montreal, QC H3G 0B1, Canada. [44] Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. [45] Pediatric Oncology Hematology Unit, Clinical Investigation Center (CIC), Multi-theme-CIC (CICP), University Hospital Bordeaux, Bordeaux 33000, France. [46] Translational 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. [47] 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; 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. [48] 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; 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. [49]
DOI 10.1016/j.cell.2023.11.036
PMID 38157855
发布时间 2024-05-22
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2024年187卷2期

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