Journal Title
Title of Journal: J Clin Immunol
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Abbravation: Journal of Clinical Immunology
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Authors: Michinori Funato Osamu Uemura Katsumi Ushijima Hidenori Ohnishi Kenji Orii Zenichiro Kato Satoshi Yamakawa Takuhito Nagai Osamu Ohara Hideo Kaneko Naomi Kondo
Publish Date: 2014/06/08
Volume: 34, Issue: 6, Pages: 691-695
Abstract
Gainoffunction 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 CFBmutated aHUS patientsWe report a large kindred in which 3 members had aHUS This kindred revealed that 9 of 12 members including 2 affected patients had persistent activation of the alternative pathway with low complement component 3 and that those 9 members showed a CFB mutation c1050G C pLys350Asn in exon 8 This missense mutation was heterozygous in 8 of them and homozygous in only one From structural studies this mutation is shown to be located in close proximity to the Mg2binding site within a von Willebrand factor type A domain of CFB resulting in a gainoffunction effect of CFB and predisposition to aHUS At present 2 of the 3 members with aHUS have maintained normal renal function for a longterm period
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