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Article

A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.

Pediatric nephrology (Berlin, Germany) - 1 May 2010

Tawadrous Hanan, Maga Tara, Sharma Josefina, Kupferman Juan, Smith Richard J H, Schoeneman Morris

Abstract excerpt

We report the case of an 8-year-old girl diagnosed with atypical hemolytic uremic syndrome (aHUS) with a complement factor B (CFB) gene mutation. aHUS is a disease of complement dysregulation. In approximately 50% of patients, mutations are identified in genes encoding regulators of complement-co...

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Source

Identifiers

PMID: 20108004
DOI: 10.1007/s00467-009-1415-3

Genes

CFB
CFH
CFI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20108004-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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