Human inherited CCR2 deficiency underlies progressive polycystic lung disease

<p dir="ltr">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 lu...

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المؤلف الرئيسي:	Anna-Lena Neehus (9320912) (author)
مؤلفون آخرون:	Brenna Carey (6433739) (author), Marija Landekic (19342651) (author), Patricia Panikulam (11114290) (author), Gail Deutsch (7546955) (author), Masato Ogishi (699705) (author), Carlos A. Arango-Franco (19342654) (author), Quentin Philippot (558140) (author), Mohammadreza Modaresi (18387159) (author), Iraj Mohammadzadeh (19342657) (author), Melissa Corcini Berndt (19342660) (author), Darawan Rinchai (742366) (author), Tom Le Voyer (18551572) (author), Jérémie Rosain (5900399) (author), Mana Momenilandi (18602914) (author), Marta Martin-Fernandez (12295293) (author), Taushif Khan (691254) (author), Jonathan Bohlen (5368448) (author), Ji Eun Han (18519936) (author), Alexandre Deslys (19342663) (author), Mathilde Bernard (5316872) (author), Tania Gajardo-Carrasco (19342666) (author), Camille Soudée (19342519) (author), Corentin Le Floc’h (19342669) (author), Mélanie Migaud (5913107) (author), Yoann Seeleuthner (10232517) (author), Mi-Sun Jang (803706) (author), Eirini Nikolouli (19342672) (author), Simin Seyedpour (19342675) (author), Hugues Begueret (301081) (author), Jean-François Emile (64705) (author), Pierre Le Guen (7527128) (author), Guido Tavazzi (7318187) (author), Costanza Natalia Julia Colombo (19342678) (author), Federico Capra Marzani (17381578) (author), Micol Angelini (19342681) (author), Francesca Trespidi (19342684) (author), Stefano Ghirardello (5305442) (author), Nasrin Alipour (19342687) (author), Anne Molitor (3601142) (author), Raphael Carapito (5871032) (author), Mohsen Mazloomrezaei (19342690) (author), Hassan Rokni-Zadeh (413517) (author), Majid Changi-Ashtiani (18602893) (author), Chantal Brouzes (19342693) (author), Pablo Vargas (154177) (author), Alessandro Borghesi (1871344) (author), Nico Lachmann (3507401) (author), Seiamak Bahram (30815) (author), Bruno Crestani (288325) (author), Michael Fayon (709525) (author), François Galode (11705705) (author), Susanta Pahari (37943) (author), Larry S. Schlesinger (7323335) (author), Nico Marr (349853) (author), Dusan Bogunovic (9340037) (author), Stéphanie Boisson-Dupuis (64693) (author), Vivien Béziat (204259) (author), Laurent Abel (69833) (author), Raphael Borie (288318) (author), Lisa R. Young (5406290) (author), Robin Deterding (19342696) (author), Mohammad Shahrooei (847633) (author), Nima Rezaei (783910) (author), Nima Parvaneh (353296) (author), Daniel Craven (19342699) (author), Philippe Gros (91626) (author), Danielle Malo (279227) (author), Fernando E. Sepulveda (7829006) (author), Lawrence M. Nogee (19342702) (author), Nathalie Aladjidi (8729985) (author), Bruce C. Trapnell (19342705) (author), Jean-Laurent Casanova (64712) (author), Jacinta Bustamante (64702) (author)
منشور في:	2024
الموضوعات:	Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Immunology cystic lung disease monocytemacrophage recurrent infection chemotaxis PAP
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!

_version_	1864513509300109312
author	Anna-Lena Neehus (9320912)
author2	Brenna Carey (6433739) Marija Landekic (19342651) Patricia Panikulam (11114290) Gail Deutsch (7546955) Masato Ogishi (699705) Carlos A. Arango-Franco (19342654) Quentin Philippot (558140) Mohammadreza Modaresi (18387159) Iraj Mohammadzadeh (19342657) Melissa Corcini Berndt (19342660) Darawan Rinchai (742366) Tom Le Voyer (18551572) Jérémie Rosain (5900399) Mana Momenilandi (18602914) Marta Martin-Fernandez (12295293) Taushif Khan (691254) Jonathan Bohlen (5368448) Ji Eun Han (18519936) Alexandre Deslys (19342663) Mathilde Bernard (5316872) Tania Gajardo-Carrasco (19342666) Camille Soudée (19342519) Corentin Le Floc’h (19342669) Mélanie Migaud (5913107) Yoann Seeleuthner (10232517) Mi-Sun Jang (803706) Eirini Nikolouli (19342672) Simin Seyedpour (19342675) Hugues Begueret (301081) Jean-François Emile (64705) Pierre Le Guen (7527128) Guido Tavazzi (7318187) Costanza Natalia Julia Colombo (19342678) Federico Capra Marzani (17381578) Micol Angelini (19342681) Francesca Trespidi (19342684) Stefano Ghirardello (5305442) Nasrin Alipour (19342687) Anne Molitor (3601142) Raphael Carapito (5871032) Mohsen Mazloomrezaei (19342690) Hassan Rokni-Zadeh (413517) Majid Changi-Ashtiani (18602893) Chantal Brouzes (19342693) Pablo Vargas (154177) Alessandro Borghesi (1871344) Nico Lachmann (3507401) Seiamak Bahram (30815) Bruno Crestani (288325) Michael Fayon (709525) François Galode (11705705) Susanta Pahari (37943) Larry S. Schlesinger (7323335) Nico Marr (349853) Dusan Bogunovic (9340037) Stéphanie Boisson-Dupuis (64693) Vivien Béziat (204259) Laurent Abel (69833) Raphael Borie (288318) Lisa R. Young (5406290) Robin Deterding (19342696) Mohammad Shahrooei (847633) Nima Rezaei (783910) Nima Parvaneh (353296) Daniel Craven (19342699) Philippe Gros (91626) Danielle Malo (279227) Fernando E. Sepulveda (7829006) Lawrence M. Nogee (19342702) Nathalie Aladjidi (8729985) Bruce C. Trapnell (19342705) Jean-Laurent Casanova (64712) Jacinta Bustamante (64702)
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
author_facet	Anna-Lena Neehus (9320912) Brenna Carey (6433739) Marija Landekic (19342651) Patricia Panikulam (11114290) Gail Deutsch (7546955) Masato Ogishi (699705) Carlos A. Arango-Franco (19342654) Quentin Philippot (558140) Mohammadreza Modaresi (18387159) Iraj Mohammadzadeh (19342657) Melissa Corcini Berndt (19342660) Darawan Rinchai (742366) Tom Le Voyer (18551572) Jérémie Rosain (5900399) Mana Momenilandi (18602914) Marta Martin-Fernandez (12295293) Taushif Khan (691254) Jonathan Bohlen (5368448) Ji Eun Han (18519936) Alexandre Deslys (19342663) Mathilde Bernard (5316872) Tania Gajardo-Carrasco (19342666) Camille Soudée (19342519) Corentin Le Floc’h (19342669) Mélanie Migaud (5913107) Yoann Seeleuthner (10232517) Mi-Sun Jang (803706) Eirini Nikolouli (19342672) Simin Seyedpour (19342675) Hugues Begueret (301081) Jean-François Emile (64705) Pierre Le Guen (7527128) Guido Tavazzi (7318187) Costanza Natalia Julia Colombo (19342678) Federico Capra Marzani (17381578) Micol Angelini (19342681) Francesca Trespidi (19342684) Stefano Ghirardello (5305442) Nasrin Alipour (19342687) Anne Molitor (3601142) Raphael Carapito (5871032) Mohsen Mazloomrezaei (19342690) Hassan Rokni-Zadeh (413517) Majid Changi-Ashtiani (18602893) Chantal Brouzes (19342693) Pablo Vargas (154177) Alessandro Borghesi (1871344) Nico Lachmann (3507401) Seiamak Bahram (30815) Bruno Crestani (288325) Michael Fayon (709525) François Galode (11705705) Susanta Pahari (37943) Larry S. Schlesinger (7323335) Nico Marr (349853) Dusan Bogunovic (9340037) Stéphanie Boisson-Dupuis (64693) Vivien Béziat (204259) Laurent Abel (69833) Raphael Borie (288318) Lisa R. Young (5406290) Robin Deterding (19342696) Mohammad Shahrooei (847633) Nima Rezaei (783910) Nima Parvaneh (353296) Daniel Craven (19342699) Philippe Gros (91626) Danielle Malo (279227) Fernando E. Sepulveda (7829006) Lawrence M. Nogee (19342702) Nathalie Aladjidi (8729985) Bruce C. Trapnell (19342705) Jean-Laurent Casanova (64712) Jacinta Bustamante (64702)
author_role	author
dc.creator.none.fl_str_mv	Anna-Lena Neehus (9320912) Brenna Carey (6433739) Marija Landekic (19342651) Patricia Panikulam (11114290) Gail Deutsch (7546955) Masato Ogishi (699705) Carlos A. Arango-Franco (19342654) Quentin Philippot (558140) Mohammadreza Modaresi (18387159) Iraj Mohammadzadeh (19342657) Melissa Corcini Berndt (19342660) Darawan Rinchai (742366) Tom Le Voyer (18551572) Jérémie Rosain (5900399) Mana Momenilandi (18602914) Marta Martin-Fernandez (12295293) Taushif Khan (691254) Jonathan Bohlen (5368448) Ji Eun Han (18519936) Alexandre Deslys (19342663) Mathilde Bernard (5316872) Tania Gajardo-Carrasco (19342666) Camille Soudée (19342519) Corentin Le Floc’h (19342669) Mélanie Migaud (5913107) Yoann Seeleuthner (10232517) Mi-Sun Jang (803706) Eirini Nikolouli (19342672) Simin Seyedpour (19342675) Hugues Begueret (301081) Jean-François Emile (64705) Pierre Le Guen (7527128) Guido Tavazzi (7318187) Costanza Natalia Julia Colombo (19342678) Federico Capra Marzani (17381578) Micol Angelini (19342681) Francesca Trespidi (19342684) Stefano Ghirardello (5305442) Nasrin Alipour (19342687) Anne Molitor (3601142) Raphael Carapito (5871032) Mohsen Mazloomrezaei (19342690) Hassan Rokni-Zadeh (413517) Majid Changi-Ashtiani (18602893) Chantal Brouzes (19342693) Pablo Vargas (154177) Alessandro Borghesi (1871344) Nico Lachmann (3507401) Seiamak Bahram (30815) Bruno Crestani (288325) Michael Fayon (709525) François Galode (11705705) Susanta Pahari (37943) Larry S. Schlesinger (7323335) Nico Marr (349853) Dusan Bogunovic (9340037) Stéphanie Boisson-Dupuis (64693) Vivien Béziat (204259) Laurent Abel (69833) Raphael Borie (288318) Lisa R. Young (5406290) Robin Deterding (19342696) Mohammad Shahrooei (847633) Nima Rezaei (783910) Nima Parvaneh (353296) Daniel Craven (19342699) Philippe Gros (91626) Danielle Malo (279227) Fernando E. Sepulveda (7829006) Lawrence M. Nogee (19342702) Nathalie Aladjidi (8729985) Bruce C. Trapnell (19342705) Jean-Laurent Casanova (64712) Jacinta Bustamante (64702)
dc.date.none.fl_str_mv	2024-01-18T12:00:00Z
dc.identifier.none.fl_str_mv	10.1016/j.cell.2023.11.036
dc.relation.none.fl_str_mv	https://figshare.com/articles/journal_contribution/Human_inherited_CCR2_deficiency_underlies_progressive_polycystic_lung_disease/26508325
dc.rights.none.fl_str_mv	CC BY 4.0 info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv	Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Immunology cystic lung disease monocytemacrophage recurrent infection chemotaxis PAP
dc.title.none.fl_str_mv	Human inherited CCR2 deficiency underlies progressive polycystic lung disease
dc.type.none.fl_str_mv	Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal
description	<p dir="ltr">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<sup>2+</sup> 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.</p><h2>Other Information</h2><p dir="ltr">Published in: Cell<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.cell.2023.11.036" target="_blank">https://dx.doi.org/10.1016/j.cell.2023.11.036</a></p>
eu_rights_str_mv	openAccess
id	Manara2_747802f5acf65436bb6defc7303278f3
identifier_str_mv	10.1016/j.cell.2023.11.036
network_acronym_str	Manara2
network_name_str	Manara2
oai_identifier_str	oai:figshare.com:article/26508325
publishDate	2024
repository.mail.fl_str_mv
repository.name.fl_str_mv
repository_id_str
rights_invalid_str_mv	CC BY 4.0
spelling	Human inherited CCR2 deficiency underlies progressive polycystic lung diseaseAnna-Lena Neehus (9320912)Brenna Carey (6433739)Marija Landekic (19342651)Patricia Panikulam (11114290)Gail Deutsch (7546955)Masato Ogishi (699705)Carlos A. Arango-Franco (19342654)Quentin Philippot (558140)Mohammadreza Modaresi (18387159)Iraj Mohammadzadeh (19342657)Melissa Corcini Berndt (19342660)Darawan Rinchai (742366)Tom Le Voyer (18551572)Jérémie Rosain (5900399)Mana Momenilandi (18602914)Marta Martin-Fernandez (12295293)Taushif Khan (691254)Jonathan Bohlen (5368448)Ji Eun Han (18519936)Alexandre Deslys (19342663)Mathilde Bernard (5316872)Tania Gajardo-Carrasco (19342666)Camille Soudée (19342519)Corentin Le Floc’h (19342669)Mélanie Migaud (5913107)Yoann Seeleuthner (10232517)Mi-Sun Jang (803706)Eirini Nikolouli (19342672)Simin Seyedpour (19342675)Hugues Begueret (301081)Jean-François Emile (64705)Pierre Le Guen (7527128)Guido Tavazzi (7318187)Costanza Natalia Julia Colombo (19342678)Federico Capra Marzani (17381578)Micol Angelini (19342681)Francesca Trespidi (19342684)Stefano Ghirardello (5305442)Nasrin Alipour (19342687)Anne Molitor (3601142)Raphael Carapito (5871032)Mohsen Mazloomrezaei (19342690)Hassan Rokni-Zadeh (413517)Majid Changi-Ashtiani (18602893)Chantal Brouzes (19342693)Pablo Vargas (154177)Alessandro Borghesi (1871344)Nico Lachmann (3507401)Seiamak Bahram (30815)Bruno Crestani (288325)Michael Fayon (709525)François Galode (11705705)Susanta Pahari (37943)Larry S. Schlesinger (7323335)Nico Marr (349853)Dusan Bogunovic (9340037)Stéphanie Boisson-Dupuis (64693)Vivien Béziat (204259)Laurent Abel (69833)Raphael Borie (288318)Lisa R. Young (5406290)Robin Deterding (19342696)Mohammad Shahrooei (847633)Nima Rezaei (783910)Nima Parvaneh (353296)Daniel Craven (19342699)Philippe Gros (91626)Danielle Malo (279227)Fernando E. Sepulveda (7829006)Lawrence M. Nogee (19342702)Nathalie Aladjidi (8729985)Bruce C. Trapnell (19342705)Jean-Laurent Casanova (64712)Jacinta Bustamante (64702)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesImmunologycystic lung diseasemonocytemacrophagerecurrent infectionchemotaxisPAP<p dir="ltr">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<sup>2+</sup> 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.</p><h2>Other Information</h2><p dir="ltr">Published in: Cell<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.cell.2023.11.036" target="_blank">https://dx.doi.org/10.1016/j.cell.2023.11.036</a></p>2024-01-18T12:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1016/j.cell.2023.11.036https://figshare.com/articles/journal_contribution/Human_inherited_CCR2_deficiency_underlies_progressive_polycystic_lung_disease/26508325CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/265083252024-01-18T12:00:00Z
spellingShingle	Human inherited CCR2 deficiency underlies progressive polycystic lung disease Anna-Lena Neehus (9320912) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Immunology cystic lung disease monocytemacrophage recurrent infection chemotaxis PAP
status_str	publishedVersion
title	Human inherited CCR2 deficiency underlies progressive polycystic lung disease
title_full	Human inherited CCR2 deficiency underlies progressive polycystic lung disease
title_fullStr	Human inherited CCR2 deficiency underlies progressive polycystic lung disease
title_full_unstemmed	Human inherited CCR2 deficiency underlies progressive polycystic lung disease
title_short	Human inherited CCR2 deficiency underlies progressive polycystic lung disease
title_sort	Human inherited CCR2 deficiency underlies progressive polycystic lung disease
topic	Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Immunology cystic lung disease monocytemacrophage recurrent infection chemotaxis PAP

Human inherited CCR2 deficiency underlies progressive polycystic lung disease

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