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Lookup NU author(s): Dr Iain Moore, Dr Lisa Turnbull, Dr Isabel PappworthORCiD, Professor David KavanaghORCiD, James Staniforth, Dr Lynette Morgan, Professor Tim Goodship, Professor Kevin MarchbankORCiD
This is the final published version of an article that has been published in its final definitive form by American Society of Hematology, 2010.
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Factor H autoantibodies have been reported in approximately 10% of patients with atypical hemolytic uremic syndrome (aHUS) and are associated with deficiency of factor H-related proteins 1 and 3. In this study we examined the prevalence of factor H autoantibodies in the Newcastle cohort of aHUS patients, determined whether the presence of such autoantibodies is always associated with deficiency of factor H-related proteins 1 and 3, and examined whether such patients have additional susceptibility factors and/or mutations in the genes encoding complement regulator/activators. We screened 142 patients with aHUS and found factor H autoantibodies in 13 individuals (age 1-11 years). The presence of the autoantibodies was confirmed by Western blotting. By using multiplex ligation-dependent probe amplification we measured complement factor H-related (CFHR) 1 and CFHR3 copy number. In 10 of the 13 patients there were 0 copies of CFHR1, and in 3 patients there were 2. In 3 of the patients with 0 copies of CFHR1 there was 1 copy of CFHR3, and these individuals exhibited a novel deletion incorporating CFHR1 and CFHR4. In 5 patients mutations were identified: 1 in CFH, 1 in CFI, 1 in CD46, and 2 in C3. The latter observation emphasizes that multiple concurrent factors may be necessary in individual patients for disease manifestation. (Blood. 2010; 115: 379-387)
Author(s): Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship THJ, Marchbank KJ
Publication type: Article
Publication status: Published
Journal: Blood
Year: 2010
Volume: 115
Issue: 2
Pages: 379-387
Date deposited: 29/04/2010
ISSN (print): 0006-4971
ISSN (electronic): 1528-0020
Publisher: American Society of Hematology
URL: http://dx.doi.org/10.1182/blood-2009-05-221549
DOI: 10.1182/blood-2009-05-221549
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