Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease

Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease Publisher Pubmed

Neehus AL^{1, 2} ; Carey B^{3, 63} ; Landekic M⁴ ; Panikulam P⁵ ; Deutsch G⁶ ; Ogishi M⁷ ; Arangofranco CA^{1, 2, 8} ; Philippot Q^{1, 2} ; Modaresi M^{9, 61} ; Mohammadzadeh I^{10, 60} ; Corcini Berndt M^{1, 2} ; Rinchai D⁷ ; Le Voyer T^{1, 2} ; Rosain J^{1, 2, 11} Show All Authors

Neehus AL^{1, 2}
Carey B^{3, 63}
Landekic M⁴
Panikulam P⁵
Deutsch G⁶
Ogishi M⁷
Arangofranco CA^{1, 2, 8}
Philippot Q^{1, 2}
Modaresi M^{9, 61}
Mohammadzadeh I^{10, 60}
Corcini Berndt M^{1, 2}
Rinchai D⁷
Le Voyer T^{1, 2}
Rosain J^{1, 2, 11}
Momenilandi M^{1, 2}
Martinfernandez M^{12, 13, 14, 15, 16}
Khan T⁶²
Bohlen J^{1, 2}
Han JE⁷
Deslys A¹⁸
Bernard M^{18, 19, 20}
Gajardocarrasco T⁵
Soudee C^{1, 2}
Le Floch C^{1, 2}
Migaud M^{1, 2}
Seeleuthner Y^{1, 2}
Jang MS²¹
Nikolouli E²¹
Seyedpour S^{22, 23}
Begueret H²⁴
Emile JF²⁵
Le Guen P²⁶
Tavazzi G^{27, 28}
Colombo CNJ^{28, 29}
Marzani FC²⁸
Angelini M³⁰
Trespidi F³⁰
Ghirardello S³⁰
Alipour N^{31, 32}
Molitor A^{31, 32}
Carapito R^{31, 32, 33}
Mazloomrezaei M³⁴
Roknizadeh H³⁵
Changiashtiani M³⁶
Brouzes C³⁷
Vargas P^{18, 19, 20}
Borghesi A^{30, 38}
Lachmann N^{21, 39, 40, 41}
Bahram S^{31, 32, 33}
Crestani B²⁶
Pahari S⁴²
Schlesinger LS⁴²
Marr N^{17, 43, 44}
Bugonovic D^{12, 13, 14, 15, 16}
Boissondupuis S^{1, 2, 7}
Beziat V^{1, 2, 7}
Abel L^{1, 2, 7}
Borie R²⁶
Young LR⁴⁵
Deterding R⁴⁶
Shahrooei M^{34, 47}
Rezaei N^{22, 48, 49}
Parvaneh N⁵⁰
Craven D⁵¹
Gros P^{52, 53}
Malo D^{4, 54}
Sepulveda FE⁵
Nogee LM⁵⁵
Aladjidi N⁵⁶
Trapnell BC^{3, 57}
Casanova JL^{1, 2, 7, 58, 59}
Bustamante J^{1, 2, 7, 11}

Source: Cell Published:2024

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 Guerin (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. © 2023 The Author(s)

Related Docs

View other Related Docs

1. Human Mcts1-Dependent Translation of Jak2 Is Essential for Ifn-Γ Immunity to Mycobacteria, Cell (2023)

2. Flt3l Governs the Development of Partially Overlapping Hematopoietic Lineages in Humans and Mice, Cell (2024)

3. Human Il-23 Is Essential for Ifn-Γ–Dependent Immunity to Mycobacteria, Science Immunology (2023)

Experts (# of related papers)

View all Related Experts

Nima Parvaneh (7)

Nima Rezaei (4)

Style	Citing Format
MLA	Neehus AL, et al.. "Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease." Cell, vol. 187, no. 2, 2024, pp. 390-408.e23.
APA	Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arangofranco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Corcini Berndt M, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martinfernandez M, Khan T, Bohlen J, Han JE, ... Bustamante J (2024). Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease. Cell, 187(2), 390-408.e23.
Chicago	Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arangofranco CA, et al.. "Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease." Cell 187, no. 2 (2024): 390-408.e23.
Harvard	Neehus AL et al. (2024) 'Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease', Cell, 187(2), pp. 390-408.e23.
Vancouver	Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, et al.. Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease. Cell. 2024;187(2):390-408.e23.
BibTex	@article{ author = {Neehus AL and Carey B and Landekic M and Panikulam P and Deutsch G and Ogishi M and Arangofranco CA and Philippot Q and Modaresi M and Mohammadzadeh I and Corcini Berndt M and Rinchai D and Le Voyer T and Rosain J and Momenilandi M and Martinfernandez M and Khan T and Bohlen J and Han JE and Deslys A and Bernard M and Gajardocarrasco T and Soudee C and Le Floch C and Migaud M and Seeleuthner Y and Jang MS and Nikolouli E and Seyedpour S and Begueret H and Emile JF and Le Guen P and Tavazzi G and Colombo CNJ and Marzani FC and Angelini M and Trespidi F and Ghirardello S and Alipour N and Molitor A and Carapito R and Mazloomrezaei M and Roknizadeh H and Changiashtiani M and Brouzes C and Vargas P and Borghesi A and Lachmann N and Bahram S and Crestani B and Pahari S and Schlesinger LS and Marr N and Bugonovic D and Boissondupuis S and Beziat V and Abel L and Borie R and Young LR and Deterding R and Shahrooei M and Rezaei N and Parvaneh N and Craven D and Gros P and Malo D and Sepulveda FE and Nogee LM and Aladjidi N and Trapnell BC and Casanova JL and Bustamante J}, title = {Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease}, journal = {Cell}, volume = {187}, number = {2}, pages = {390-408.e23}, year = {2024} }
RIS	TY - JOUR AU - Neehus AL AU - Carey B AU - Landekic M AU - Panikulam P AU - Deutsch G AU - Ogishi M AU - Arangofranco CA AU - Philippot Q AU - Modaresi M AU - Mohammadzadeh I AU - Corcini Berndt M AU - Rinchai D AU - Le Voyer T AU - Rosain J AU - Momenilandi M AU - Martinfernandez M AU - Khan T AU - Bohlen J AU - Han JE AU - Deslys A AU - Bernard M AU - Gajardocarrasco T AU - Soudee C AU - Le Floch C AU - Migaud M AU - Seeleuthner Y AU - Jang MS AU - Nikolouli E AU - Seyedpour S AU - Begueret H AU - Emile JF AU - Le Guen P AU - Tavazzi G AU - Colombo CNJ AU - Marzani FC AU - Angelini M AU - Trespidi F AU - Ghirardello S AU - Alipour N AU - Molitor A AU - Carapito R AU - Mazloomrezaei M AU - Roknizadeh H AU - Changiashtiani M AU - Brouzes C AU - Vargas P AU - Borghesi A AU - Lachmann N AU - Bahram S AU - Crestani B AU - Pahari S AU - Schlesinger LS AU - Marr N AU - Bugonovic D AU - Boissondupuis S AU - Beziat V AU - Abel L AU - Borie R AU - Young LR AU - Deterding R AU - Shahrooei M AU - Rezaei N AU - Parvaneh N AU - Craven D AU - Gros P AU - Malo D AU - Sepulveda FE AU - Nogee LM AU - Aladjidi N AU - Trapnell BC AU - Casanova JL AU - Bustamante J TI - Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease JO - Cell VL - 187 IS - 2 SP - 390 EP - 408.e23 PY - 2024 ER -

Style

Citing Format

MLA

Neehus AL, et al.. "Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease." Cell, vol. 187, no. 2, 2024, pp. 390-408.e23.

APA

Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arangofranco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Corcini Berndt M, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martinfernandez M, Khan T, Bohlen J, Han JE, ... Bustamante J (2024). Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease. Cell, 187(2), 390-408.e23.

Chicago

Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arangofranco CA, et al.. "Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease." Cell 187, no. 2 (2024): 390-408.e23.

Harvard

Neehus AL et al. (2024) 'Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease', Cell, 187(2), pp. 390-408.e23.

Vancouver

Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, et al.. Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease. Cell. 2024;187(2):390-408.e23.

BibTex

@article{ author = {Neehus AL and Carey B and Landekic M and Panikulam P and Deutsch G and Ogishi M and Arangofranco CA and Philippot Q and Modaresi M and Mohammadzadeh I and Corcini Berndt M and Rinchai D and Le Voyer T and Rosain J and Momenilandi M and Martinfernandez M and Khan T and Bohlen J and Han JE and Deslys A and Bernard M and Gajardocarrasco T and Soudee C and Le Floch C and Migaud M and Seeleuthner Y and Jang MS and Nikolouli E and Seyedpour S and Begueret H and Emile JF and Le Guen P and Tavazzi G and Colombo CNJ and Marzani FC and Angelini M and Trespidi F and Ghirardello S and Alipour N and Molitor A and Carapito R and Mazloomrezaei M and Roknizadeh H and Changiashtiani M and Brouzes C and Vargas P and Borghesi A and Lachmann N and Bahram S and Crestani B and Pahari S and Schlesinger LS and Marr N and Bugonovic D and Boissondupuis S and Beziat V and Abel L and Borie R and Young LR and Deterding R and Shahrooei M and Rezaei N and Parvaneh N and Craven D and Gros P and Malo D and Sepulveda FE and Nogee LM and Aladjidi N and Trapnell BC and Casanova JL and Bustamante J}, title = {Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease}, journal = {Cell}, volume = {187}, number = {2}, pages = {390-408.e23}, year = {2024} }

RIS

TY - JOUR
AU - Neehus AL
AU - Carey B
AU - Landekic M
AU - Panikulam P
AU - Deutsch G
AU - Ogishi M
AU - Arangofranco CA
AU - Philippot Q
AU - Modaresi M
AU - Mohammadzadeh I
AU - Corcini Berndt M
AU - Rinchai D
AU - Le Voyer T
AU - Rosain J
AU - Momenilandi M
AU - Martinfernandez M
AU - Khan T
AU - Bohlen J
AU - Han JE
AU - Deslys A
AU - Bernard M
AU - Gajardocarrasco T
AU - Soudee C
AU - Le Floch C
AU - Migaud M
AU - Seeleuthner Y
AU - Jang MS
AU - Nikolouli E
AU - Seyedpour S
AU - Begueret H
AU - Emile JF
AU - Le Guen P
AU - Tavazzi G
AU - Colombo CNJ
AU - Marzani FC
AU - Angelini M
AU - Trespidi F
AU - Ghirardello S
AU - Alipour N
AU - Molitor A
AU - Carapito R
AU - Mazloomrezaei M
AU - Roknizadeh H
AU - Changiashtiani M
AU - Brouzes C
AU - Vargas P
AU - Borghesi A
AU - Lachmann N
AU - Bahram S
AU - Crestani B
AU - Pahari S
AU - Schlesinger LS
AU - Marr N
AU - Bugonovic D
AU - Boissondupuis S
AU - Beziat V
AU - Abel L
AU - Borie R
AU - Young LR
AU - Deterding R
AU - Shahrooei M
AU - Rezaei N
AU - Parvaneh N
AU - Craven D
AU - Gros P
AU - Malo D
AU - Sepulveda FE
AU - Nogee LM
AU - Aladjidi N
AU - Trapnell BC
AU - Casanova JL
AU - Bustamante J
TI - Human Inherited Ccr2 Deficiency Underlies Progressive Polycystic Lung Disease
JO - Cell
VL - 187
IS - 2
SP - 390
EP - 408.e23
PY - 2024
ER -

Science Communicator Platform

Authors

Abstract