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Article

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

Proceedings of the National Academy of Sciences of the United States of America - 2 Jan 2007

Goicoechea de Jorge Elena, Harris Claire L, Esparza-Gordillo Jorge, Carreras Luis, Arranz Elena Aller, Garrido Cynthia Abarrategui, López-Trascasa Margarita, Sánchez-Corral Pilar, Morgan B Paul, Rodríguez de Córdoba Santiago

Abstract excerpt

Hemolytic uremic syndrome (HUS) is an important cause of acute renal failure in children. Mutations in one or more genes encoding complement-regulatory proteins have been reported in approximately one-third of nondiarrheal, atypical HUS (aHUS) patients, suggesting a defect in the protection of cell surfaces against complement activation in susceptible individuals. Here, we identified a subgroup of aHUS patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17182750
DOI: 10.1073/pnas.0603420103
PMCID: PMC1765442

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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