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Article

A complement factor B mutation in a large kindred with atypical hemolytic uremic syndrome.

Journal of clinical immunology - 1 Aug 2014

Funato Michinori, Uemura Osamu, Ushijima Katsumi, Ohnishi Hidenori, Orii Kenji, Kato Zenichiro, Yamakawa Satoshi, Nagai Takuhito, Ohara Osamu, Kaneko Hideo, Kondo Naomi

Abstract excerpt

PURPOSE: Gain-of-function mutations in complement factor B (CFB) were recently identified in patients with atypical hemolytic uremic syndrome (aHUS), but are extremely rare. Our purpose is to describe a large kindred with aHUS associated with a CFB mutation and to further understand CFB-mutated aHUS patients. METHODS AND RESULTS: We report a large kindred in which 3 members had aHUS. This kindred revealed that 9...

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Identifiers

PMID: 24906628
DOI: 10.1007/s10875-014-0058-8

Genes

CFB

Variants

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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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