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A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity

Anna M. Blom, Frida Bergström, Matthew Edey, Martha Diaz-Torres, David Kavanagh, Anne Lampe, Judith A. Goodship, Lisa Strain, Nadeem Moghal, Mary McHugh, Carol Inward, Charles Tomson, Véronique Frémeaux-Bacchi, Bruno O. Villoutreix and Timothy H. J. Goodship
J Immunol May 1, 2008, 180 (9) 6385-6391; DOI: https://doi.org/10.4049/jimmunol.180.9.6385
Anna M. Blom
*Lund University, Department of Laboratory Medicine, Malmö University Hospital, Malmö, Sweden;
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Frida Bergström
*Lund University, Department of Laboratory Medicine, Malmö University Hospital, Malmö, Sweden;
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Matthew Edey
†Insitute of Human Genetics, Newcastle University;
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Martha Diaz-Torres
†Insitute of Human Genetics, Newcastle University;
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David Kavanagh
†Insitute of Human Genetics, Newcastle University;
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Anne Lampe
†Insitute of Human Genetics, Newcastle University;
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Judith A. Goodship
†Insitute of Human Genetics, Newcastle University;
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Lisa Strain
‡Northern Molecular Genetics Service and
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Nadeem Moghal
§Department of Paediatric Nephrology, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne;
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Mary McHugh
¶Department of Nephrology, City Hospitals Sunderland National Health Service Foundation Trust, Sunderland;
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Carol Inward
∥Department of Paediatric Nephrology, Bristol Royal Hospital for Children;
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Charles Tomson
#Department of Renal Medicine, Southmead Hospital, Bristol, United Kingdom;
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Véronique Frémeaux-Bacchi
**Institut National de la Santé et de la Recherche Médicale U255, Cordeliers Biomedical Research Center and Laboratory of Immunology, Georges-Pompidou European Hospital; and
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Bruno O. Villoutreix
††Institut National de la Santé et de la Recherche Médicale U648, University of Paris V, Paris, France
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Timothy H. J. Goodship
†Insitute of Human Genetics, Newcastle University;
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Article Information

vol. 180 no. 9 6385-6391
DOI 
https://doi.org/10.4049/jimmunol.180.9.6385
PubMed 
18424762

Published By 
The American Association of Immunologists, Inc.
Print ISSN 
0022-1767
Online ISSN 
1550-6606
History 
  • Received September 21, 2007
  • Accepted February 20, 2008
  • Published online April 18, 2008.

Copyright & Usage 
Copyright © 2008 by The American Association of Immunologists

Author Information

  1. Anna M. Blom2,*,
  2. Frida Bergström*,
  3. Matthew Edey†,
  4. Martha Diaz-Torres†,
  5. David Kavanagh†,
  6. Anne Lampe†,
  7. Judith A. Goodship†,
  8. Lisa Strain‡,
  9. Nadeem Moghal§,
  10. Mary McHugh¶,
  11. Carol Inward∥,
  12. Charles Tomson#,
  13. Véronique Frémeaux-Bacchi**,
  14. Bruno O. Villoutreix†† and
  15. Timothy H. J. Goodship†
  1. *Lund University, Department of Laboratory Medicine, Malmö University Hospital, Malmö, Sweden;
  2. †Insitute of Human Genetics, Newcastle University;
  3. ‡Northern Molecular Genetics Service and
  4. §Department of Paediatric Nephrology, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne;
  5. ¶Department of Nephrology, City Hospitals Sunderland National Health Service Foundation Trust, Sunderland;
  6. ∥Department of Paediatric Nephrology, Bristol Royal Hospital for Children;
  7. #Department of Renal Medicine, Southmead Hospital, Bristol, United Kingdom;
  8. **Institut National de la Santé et de la Recherche Médicale U255, Cordeliers Biomedical Research Center and Laboratory of Immunology, Georges-Pompidou European Hospital; and
  9. ††Institut National de la Santé et de la Recherche Médicale U648, University of Paris V, Paris, France
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Article usage

Article usage: April 2008 to January 2021

AbstractFullPdf
Apr 2008423351
May 2008263430
Jun 2008163531
Jul 2008241615
Aug 20082783
Sep 20084376
Oct 20082067
Nov 200815116
Dec 2008933
Total 2008222153152
Jan 2009765
Feb 20091646
Mar 20092043
Apr 20091143
May 200981514
Jun 200915119
Jul 200981010
Aug 2009101816
Sep 2009102715
Oct 200914412
Nov 2009151314
Dec 2009111212
Total 2009145128119
Jan 20106138
Feb 201031814
Mar 20107146
Apr 2010787
May 2010252411
Jun 20105117
Jul 20107126
Aug 201033136
Sep 20103787
Oct 201022119
Nov 2010232310
Dec 2010932
Total 201021214893
Jan 20116103
Feb 20117810
Mar 201191410
Apr 2011343
May 20112219
Jun 2011447
Jul 2011273
Aug 201112118
Sep 2011745
Oct 201111104
Nov 201117112
Dec 2011672
Total 20118611166
Jan 2012642
Feb 201261011
Mar 20121843
Apr 20121075
May 201214316
Jun 20127278
Jul 201215137
Aug 201214132
Sep 201212164
Oct 201214349
Nov 201213234
Dec 20128195
Total 201213720166
Jan 20135115
Feb 201313155
Mar 201310164
Apr 201318104
May 201313122
Jun 20137109
Jul 20131392
Aug 20131185
Sep 20134105
Oct 201312710
Nov 2013743
Dec 2013822
Total 201312111456
Jan 20141024
Feb 2014563
Mar 20146197
Apr 201461610
May 20147813
Jun 20148812
Jul 20146105
Aug 20141143
Sep 2014325
Oct 20141343
Nov 2014466
Dec 201411121
Total 2014809692
Jan 20153810
Feb 2015345
Mar 20151077
Apr 2015392
May 20155117
Jun 2015365
Jul 201521111
Aug 2015558
Sep 20151463
Oct 20151145
Nov 2015861
Dec 201571112
Total 2015748876
Jan 20161044
Feb 2016133
Mar 20169514
Apr 20165103
May 2016788
Jun 2016454
Jul 2016868
Aug 2016748
Sep 20162613
Oct 2016276
Nov 20163011
Dec 2016237
Total 2016606189
Jan 20171115
Feb 2017077
Mar 2017092
Apr 2017534
May 2017483
Jun 2017475
Jul 2017667
Aug 2017332
Sep 2017283
Oct 2017251
Nov 20174145
Dec 2017099
Total 2017319053
Jan 2018074
Feb 2018076
Mar 20182144
Apr 20180161
May 201821611
Jun 201811110
Jul 2018269
Aug 2018077
Sep 2018055
Oct 20180126
Nov 20180106
Dec 201811110
Total 2018812279
Jan 20191103
Feb 20191116
Mar 20190119
Apr 2019086
May 2019599
Jun 20194910
Jul 20192912
Aug 201931515
Sep 2019039
Oct 201922012
Nov 20191411
Dec 2019169
Total 201920115111
Jan 202011211
Feb 20200175
Mar 20203189
Apr 20200118
May 2020086
Jun 2020076
Jul 2020154
Aug 20200174
Sep 20202107
Oct 202001113
Nov 20202107
Dec 20201124
Total 20201013884
Jan 2021083
Total 2021083
Total120615731139

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The Journal of Immunology: 180 (9)
The Journal of Immunology
Vol. 180, Issue 9
1 May 2008
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A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity
Anna M. Blom, Frida Bergström, Matthew Edey, Martha Diaz-Torres, David Kavanagh, Anne Lampe, Judith A. Goodship, Lisa Strain, Nadeem Moghal, Mary McHugh, Carol Inward, Charles Tomson, Véronique Frémeaux-Bacchi, Bruno O. Villoutreix, Timothy H. J. Goodship
The Journal of Immunology May 1, 2008, 180 (9) 6385-6391; DOI: 10.4049/jimmunol.180.9.6385

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A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity
Anna M. Blom, Frida Bergström, Matthew Edey, Martha Diaz-Torres, David Kavanagh, Anne Lampe, Judith A. Goodship, Lisa Strain, Nadeem Moghal, Mary McHugh, Carol Inward, Charles Tomson, Véronique Frémeaux-Bacchi, Bruno O. Villoutreix, Timothy H. J. Goodship
The Journal of Immunology May 1, 2008, 180 (9) 6385-6391; DOI: 10.4049/jimmunol.180.9.6385
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