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Article

Molecular pathogenesis of human CD59 deficiency

29 Oct 2018

Abstract excerpt

OBJECTIVE: To characterize all 4 mutations described for CD59 congenital deficiency. METHODS: The 4 mutations, p.Cys64Tyr, p.Asp24Val, p.Asp24Valfs*, and p.Ala16Alafs*, were described in 13 individuals with CD59 malfunction. All 13 presented with recurrent Guillain-Barré syndrome or chronic inflammatory demyelinating polyneuropathy, recurrent strokes, and chronic hemolysis. Here, we track the molecular...

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PMID: 30533526
DOI: 10.1212/nxg.0000000000000280

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