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Article

Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.

Blood - 10 Aug 2023

Java Anuja, Atkinson John, Hu Zheng, Pozzi Nicola

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy. Genetic variants in complement proteins are found in ≈60% of patients. Of these patients, ≈15% carry mutations in complement factor I (CFI). Factor I (FI) is a multidomain serine protease that cleaves and thereby inactivates C3b and C4b in the presence of cofactor proteins. Crystal structures have shown that FI possesses 2...

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Identifiers

PMID: 37363824
DOI: 10.1182/blood.2022019361
PMCID: PMC10447607

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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