Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

NBR-RD PID Consortium; NIHR BioResource

doi:10.1111/bjh.17081

Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

NBR-RD PID Consortium, NIHR BioResource

Pediatric surgery

Research output: Contribution to journal › Letter › Academic › peer-review

Original language	English
Pages (from-to)	930-934
Number of pages	5
Journal	British Journal of Haematology
Volume	191
Issue number	5
DOIs	https://doi.org/10.1111/bjh.17081
Publication status	Published - Dec 2020

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10.1111/bjh.17081

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@article{f68b033e087d40a198ce973f114218b9,

title = "Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees",

keywords = "congenital neutropenia, granulocyte colony-stimulating factor, granulocyte colony-stimulating factor receptor, neutrophils, primary immunodeficiency",

author = "Sprenkeler, {Evelien G.G.} and Tool, {Anton T.J.} and Kreft, {Iris C.} and {van Alphen}, {Floris P.J.} and Seneviratne, {Suranjith L.} and Jesmeen Maimaris and Asad Luqmani and Karin Vanleeuwen and Robin Vanbruggen and Burns, {Siobhan O.} and Kuijpers, {Taco W.} and Zoe Adhya and Hana Alachkar and Allen, {Carl E.} and Anantharachagan, {Ari Haran} and Richard Antrobus and Gururaj Arumu-Gakani and Chiara Bacchelli and Baxendale, {Helen E.} and Claire Bethune and Shahnaz Bibi and Barbara Boardman and Claire Booth and Matthew Brown and Browning, {Michael J.} and Mary Brownlie and Buckland, {Matthew S.} and Burns, {Siobhan O.} and Burren, {Oliver S.} and Anita Chandra and Chinn, {Ivan K.} and Hayley Clifford and Nichola Cooper and Bree, {Godelieve J.de} and Davies, {E. Graham} and Sarah Deacock and John Dempster and Devlin, {Lisa A.} and Elizabeth Drewe and Edgar, {J. David M.} and William Egner and Khalifa, {Shuayb El} and Tariq El-Shanawany and Farmery, {James H.R.} and Gaspar, {H. Bobby} and Rohit Ghurye and Gil-Mour, {Kimberly C.} and Sarah Goddard and Pavels Gordins and Sofia Grigoriadou and Hackett, {Scott J.} and Rosie Hague and Lorraine Harper and Grant Hayman and Archana Herwadkar and Stephen Hughes and Huissoon, {Aarnoud P.} and Stephen Jolles and Julie Jones and Karim, {Yousuf M.} and Peter Kelleher and Sorena Kiani and Nigel Klein and Kuijpers, {Taco W.} and Kumararatne, {Dinakantha S.} and James Laffan and Allen, {Hana Lango} and Lear, {Sara E.} and Hilary Longhurst and Lorenzo, {Lorena E.} and Lyons, {Paul A.} and Jesmeen Maimaris and Ania Manson and McDermott, {Elizabeth M.} and Hazel Millar and Anoop Mistry and Valerie Morrisson and Murng, {Sai H.K.} and Iman Nasir and Sergey Nejentsev and Sadia Noor-Ani and Eric Oksenhendler and Ponsford, {Mark J.} and Waseem Qasim and Ellen Quinn and Isabella Quinti and Paula Rayner-Matthews and Alex Richter and Crina Samarghitean and Sargur, {Ravishankar B.} and Sinisa Savic and Seneviratne, {Suranjith L.} and Sewell, {W. A.Carrock} and Fiona Shackley and Olga Shamardina and Ilenia Simeoni and Smith, {Kenneth G.C.} and Emily Staples and Hans Stauss and Steele, {Cathal L.} and Stirrups, {Kathleen E.} and Thaventhiran, {James E.} and Thomas, {David C.} and Thomas, {Moira J.} and Thrasher, {Adrian J.} and Todd, {John A.} and Tool, {Anton T.J.} and Salih Tuna and Urniaz, {Rafal D.} and Welch, {Steven B.} and Lisa Willcocks and Sarita Workman and Austen Worth and Nigel Yeatman and Yong, {Patrick F.K.} and {NBR-RD PID Consortium} and {NIHR BioResource}",

note = "Funding Information: This study was funded in part by the European Union's Horizon 2020 research and innovation programme under Grant Agreement No. 668303, Program on Prevention Outcomes Practices Grant PPOP‐12‐001 and the Center of Immunodeficiencies Amsterdam Grant CIDA‐2015. Funding Information: We are most grateful to the patients and their families for their collaboration. We thank Ida H. Hiemstra and Cathelijn E.M. Aarts for isolation of bone marrow neutrophils and flow cytometric analysis. We thank NIHR BioResource volunteers for their participation, and gratefully acknowledge NIHR BioResource centres, NHS Trusts and staff for their contribution. We thank the National Institute for Health Research and NHS Blood and Transplant. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. We would like to thank the members of the NBR-RD PID Consortium: Zoe Adhya, Hana Alachkar, Carl E. Allen, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen E Baxendale, Claire Bethune, Shahnaz Bibi, Barbara Boardman, Claire Booth, Matthew Brown, Michael J Browning, Mary Brownlie, Matthew S Buckland, Siobhan O Burns, Oliver S Burren, Anita Chandra, Ivan K. Chinn, Hayley Clifford, Nichola Cooper, Godelieve J de Bree, E Graham Davies, Sarah Deacock, John Dempster, Lisa A Devlin, Elizabeth Drewe, J David M Edgar, William Egner, Shuayb El Khalifa, Tariq El-Shanawany, James H R Farmery, H Bobby Gaspar, Rohit Ghurye, Kimberly C Gilmour, Sarah Goddard, Pavels Gordins, Sofia Grigoriadou, Scott J Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Stephen Hughes, Aarnoud P Huissoon, Stephen Jolles, Julie Jones, Yousuf M Karim, Peter Kelleher, Sorena Kiani, Nigel Klein, Taco W Kuijpers, Dinakantha S Kumararatne, James Laffan, Hana Lango Allen, Sara E Lear, Hilary Longhurst, Lorena E Lorenzo, Paul A Lyons, Jesmeen Maimaris, Ania Manson, Elizabeth M McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai H K Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark J Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, Paula Rayner-Matthews, Alex Richter, Crina Samarghitean, Ravishankar B Sargur, Sinisa Savic, Suranjith L Seneviratne, W A Carrock Sewell, Fiona Shackley, Olga Shamardina, Ilenia Simeoni, Kenneth G C Smith, Emily Staples, Hans Stauss, Cathal L Steele, Kathleen E Stirrups, James E Thaventhiran, David C Thomas, Moira J Thomas, Adrian J Thrasher, John A Todd, Anton T J Tool, Salih Tuna, Rafal D Urniaz, Steven B Welch, Lisa Willcocks, Sarita Workman, Austen Worth, Nigel Yeatman, Patrick F K Yong.",

year = "2020",

month = dec,

doi = "10.1111/bjh.17081",

language = "English",

volume = "191",

pages = "930--934",

journal = "British Journal of Haematology",

issn = "0007-1048",

publisher = "Wiley-Blackwell",

number = "5",

}

TY - JOUR

T1 - Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils

T2 - two novel pedigrees

AU - Sprenkeler, Evelien G.G.

AU - Tool, Anton T.J.

AU - Kreft, Iris C.

AU - van Alphen, Floris P.J.

AU - Seneviratne, Suranjith L.

AU - Maimaris, Jesmeen

AU - Luqmani, Asad

AU - Vanleeuwen, Karin

AU - Vanbruggen, Robin

AU - Burns, Siobhan O.

AU - Kuijpers, Taco W.

AU - Adhya, Zoe

AU - Alachkar, Hana

AU - Allen, Carl E.

AU - Anantharachagan, Ari Haran

AU - Antrobus, Richard

AU - Arumu-Gakani, Gururaj

AU - Bacchelli, Chiara

AU - Baxendale, Helen E.

AU - Bethune, Claire

AU - Bibi, Shahnaz

AU - Boardman, Barbara

AU - Booth, Claire

AU - Brown, Matthew

AU - Browning, Michael J.

AU - Brownlie, Mary

AU - Buckland, Matthew S.

AU - Burns, Siobhan O.

AU - Burren, Oliver S.

AU - Chandra, Anita

AU - Chinn, Ivan K.

AU - Clifford, Hayley

AU - Cooper, Nichola

AU - Bree, Godelieve J.de

AU - Davies, E. Graham

AU - Deacock, Sarah

AU - Dempster, John

AU - Devlin, Lisa A.

AU - Drewe, Elizabeth

AU - Edgar, J. David M.

AU - Egner, William

AU - Khalifa, Shuayb El

AU - El-Shanawany, Tariq

AU - Farmery, James H.R.

AU - Gaspar, H. Bobby

AU - Ghurye, Rohit

AU - Gil-Mour, Kimberly C.

AU - Goddard, Sarah

AU - Gordins, Pavels

AU - Grigoriadou, Sofia

AU - Hackett, Scott J.

AU - Hague, Rosie

AU - Harper, Lorraine

AU - Hayman, Grant

AU - Herwadkar, Archana

AU - Hughes, Stephen

AU - Huissoon, Aarnoud P.

AU - Jolles, Stephen

AU - Jones, Julie

AU - Karim, Yousuf M.

AU - Kelleher, Peter

AU - Kiani, Sorena

AU - Klein, Nigel

AU - Kuijpers, Taco W.

AU - Kumararatne, Dinakantha S.

AU - Laffan, James

AU - Allen, Hana Lango

AU - Lear, Sara E.

AU - Longhurst, Hilary

AU - Lorenzo, Lorena E.

AU - Lyons, Paul A.

AU - Maimaris, Jesmeen

AU - Manson, Ania

AU - McDermott, Elizabeth M.

AU - Millar, Hazel

AU - Mistry, Anoop

AU - Morrisson, Valerie

AU - Murng, Sai H.K.

AU - Nasir, Iman

AU - Nejentsev, Sergey

AU - Noor-Ani, Sadia

AU - Oksenhendler, Eric

AU - Ponsford, Mark J.

AU - Qasim, Waseem

AU - Quinn, Ellen

AU - Quinti, Isabella

AU - Rayner-Matthews, Paula

AU - Richter, Alex

AU - Samarghitean, Crina

AU - Sargur, Ravishankar B.

AU - Savic, Sinisa

AU - Seneviratne, Suranjith L.

AU - Sewell, W. A.Carrock

AU - Shackley, Fiona

AU - Shamardina, Olga

AU - Simeoni, Ilenia

AU - Smith, Kenneth G.C.

AU - Staples, Emily

AU - Stauss, Hans

AU - Steele, Cathal L.

AU - Stirrups, Kathleen E.

AU - Thaventhiran, James E.

AU - Thomas, David C.

AU - Thomas, Moira J.

AU - Thrasher, Adrian J.

AU - Todd, John A.

AU - Tool, Anton T.J.

AU - Tuna, Salih

AU - Urniaz, Rafal D.

AU - Welch, Steven B.

AU - Willcocks, Lisa

AU - Workman, Sarita

AU - Worth, Austen

AU - Yeatman, Nigel

AU - Yong, Patrick F.K.

AU - NBR-RD PID Consortium

AU - NIHR BioResource

N1 - Funding Information: This study was funded in part by the European Union's Horizon 2020 research and innovation programme under Grant Agreement No. 668303, Program on Prevention Outcomes Practices Grant PPOP‐12‐001 and the Center of Immunodeficiencies Amsterdam Grant CIDA‐2015. Funding Information: We are most grateful to the patients and their families for their collaboration. We thank Ida H. Hiemstra and Cathelijn E.M. Aarts for isolation of bone marrow neutrophils and flow cytometric analysis. We thank NIHR BioResource volunteers for their participation, and gratefully acknowledge NIHR BioResource centres, NHS Trusts and staff for their contribution. We thank the National Institute for Health Research and NHS Blood and Transplant. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. We would like to thank the members of the NBR-RD PID Consortium: Zoe Adhya, Hana Alachkar, Carl E. Allen, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen E Baxendale, Claire Bethune, Shahnaz Bibi, Barbara Boardman, Claire Booth, Matthew Brown, Michael J Browning, Mary Brownlie, Matthew S Buckland, Siobhan O Burns, Oliver S Burren, Anita Chandra, Ivan K. Chinn, Hayley Clifford, Nichola Cooper, Godelieve J de Bree, E Graham Davies, Sarah Deacock, John Dempster, Lisa A Devlin, Elizabeth Drewe, J David M Edgar, William Egner, Shuayb El Khalifa, Tariq El-Shanawany, James H R Farmery, H Bobby Gaspar, Rohit Ghurye, Kimberly C Gilmour, Sarah Goddard, Pavels Gordins, Sofia Grigoriadou, Scott J Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Stephen Hughes, Aarnoud P Huissoon, Stephen Jolles, Julie Jones, Yousuf M Karim, Peter Kelleher, Sorena Kiani, Nigel Klein, Taco W Kuijpers, Dinakantha S Kumararatne, James Laffan, Hana Lango Allen, Sara E Lear, Hilary Longhurst, Lorena E Lorenzo, Paul A Lyons, Jesmeen Maimaris, Ania Manson, Elizabeth M McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai H K Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark J Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, Paula Rayner-Matthews, Alex Richter, Crina Samarghitean, Ravishankar B Sargur, Sinisa Savic, Suranjith L Seneviratne, W A Carrock Sewell, Fiona Shackley, Olga Shamardina, Ilenia Simeoni, Kenneth G C Smith, Emily Staples, Hans Stauss, Cathal L Steele, Kathleen E Stirrups, James E Thaventhiran, David C Thomas, Moira J Thomas, Adrian J Thrasher, John A Todd, Anton T J Tool, Salih Tuna, Rafal D Urniaz, Steven B Welch, Lisa Willcocks, Sarita Workman, Austen Worth, Nigel Yeatman, Patrick F K Yong.

PY - 2020/12

Y1 - 2020/12

KW - congenital neutropenia

KW - granulocyte colony-stimulating factor

KW - granulocyte colony-stimulating factor receptor

KW - neutrophils

KW - primary immunodeficiency

UR - http://www.scopus.com/inward/record.url?scp=85091380595&partnerID=8YFLogxK

U2 - 10.1111/bjh.17081

DO - 10.1111/bjh.17081

M3 - Letter

C2 - 32966608

AN - SCOPUS:85091380595

SN - 0007-1048

VL - 191

SP - 930

EP - 934

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 5

ER -

Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

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