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Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.

Frontiers in immunology - 1 Jan 2024

Tasaki Yuko, Tsujimoto Hiroshi, Yokoyama Tadafumi, Sugimoto Naotoshi, Kitajima Shinji, Fujii Hiroshi, Hidaka Yoshihiko, Kato Noritoshi, Maruyama Shoichi, Inoue Norimitsu, Wada Taizo

Abstract excerpt

Mutations in the complement factor H (CFH) gene are associated with complement dysregulation and the development of atypical hemolytic uremic syndrome (aHUS). Several fusion genes that result from genomic structural variation in the CFH and complement factor H-related (CFHR) gene regions have been identified in aHUS. However, one allele has both CFHR gene duplication and CFH::CFHR1 fusion gene have not been...

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Identifiers

PMID: 38524137
DOI: 10.3389/fimmu.2024.1360855
PMCID: PMC10957550

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