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Article

Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome.

European journal of immunology - 1 Oct 2022

Schack Vivien R, Herlin Morten K, Pedersen Henrik, Jensen J Magnus Bernth, Faerch Mia, Bundgaard Bettina, Jensen Rasmus K, Jensen Uffe B, Christensen Rikke, Andersen Gregers R, Thiel Steffen, Höllsberg Per

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy that may lead to organ failure. Dysregulation of the complement system can cause aHUS, and various disease-related variants in the complement regulatory protein CD46 are described. We here report a pediatric patient with aHUS carrying a hitherto unreported homozygous variant in CD46 (NM_172359.3:c.602C>T p.(Ser201Leu)). In our functional...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 35987516
DOI: 10.1002/eji.202249838
PMCID: PMC9804674

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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