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Article

Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Aug 2008

Couzi Lionel, Contin-Bordes Cécile, Marliot Florence, Sarrat Anne, Grimal Pierre, Moreau Jean-François, Merville Pierre, Fremeaux-Bacchi Véronique

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathic disorder that may be familial or sporadic. Complement factor H (CFH), factor I, and membrane cofactor protein (MCP; CD46), 3 regulators of the alternative pathway of the complement system activation, have been implicated in this pathological state. To date, 29 different mutations of CD46 have been reported, with incomplete penetrance...

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Source

Identifiers

PMID: 18514989
DOI: 10.1053/j.ajkd.2008.02.359

Genes

CFH

Provenance

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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Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair.PMID 18514989Read ↗

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Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.Semantic proximity Read ↗

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