loss of cd55 in eculizumab responsive protein losing enteropathy

Rambam medical center leverages the Genoox platform to reveal how a homozygous frameshift variant in CD55 segregates with protein-losing enteropathy associated with hypercoagulability, using WES. These findings influences the treatment strategy were the patients were treated with the terminal complement inhibitor eculizumab, which has proven therapeutic benefits in other disorders of complement dysregulation, such as CD59 deficiency.

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