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

Affiliations

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, the Department of Immunopathology, Amsterdam and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, The Netherlands; Emma Children's Hospital, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam University Medical Center, 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, 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.

Free article

Aleksandra Urban et al. J Allergy Clin Immunol. 2020 Oct.

Free article

. 2020 Oct;146(4):916-919.e11.

doi: 10.1016/j.jaci.2020.02.014. Epub 2020 Feb 28.

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, the Department of Immunopathology, Amsterdam and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, The Netherlands; Emma Children's Hospital, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam University Medical Center, 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, 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.

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