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J Allergy Clin Immunol. 2020 Feb 27. pii: S0091-6749(20)30267-0. doi: 10.1016/j.jaci.2020.02.014. [Epub ahead of print]

Gain-of-function mutation in complement C2 protein identified in patient with aHUS.

Author information

1
Intercollegiate Faculty of Biotechnology, University of Gdańsk and Medical University of Gdańsk, Gdańsk, Poland.
2
Radboud university medical center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Department of Laboratory Medicine, Nijmegen, The Netherlands.
3
Department of Translational Medicine, Lund University, Malmö, Sweden.
4
Sanquin Research, Department of Immunopathology, Amsterdam and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Emma Children's Hospital, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam University Medical Center, Amsterdam, The Netherlands.
5
Radboud university medical center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Department of Laboratory Medicine, Nijmegen, The Netherlands; Department of Pediatric Nephrology and Department of Growth and Regeneration, University Hospitals Leuven, Leuven, Belgium.
6
Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Enfermedades Raras, Madrid, Spain.
7
Intercollegiate Faculty of Biotechnology, University of Gdańsk and Medical University of Gdańsk, Gdańsk, Poland. Electronic address: marcin.okroj@gumed.edu.pl.

Abstract

Complement convertases resistant to their physiological inhibitors may cause complement-related glomerulopathies. S250C substitution in complement C2 found in aHUS patient results in formation of overactive classical complement convertase insensitive to regulation by CD55.

KEYWORDS:

C3 glomerulopathy; aHUS; complement system; kidney

PMID:
32113979
DOI:
10.1016/j.jaci.2020.02.014
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