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ImmunologybioRxiv

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

L. Duchateau, L. Martin-Aguilar, C. Lleixa, A. Cortese, O. Dols-Icardo, L. Cervera-Carles, E. Pascual-Goni, J. Diaz-Manera, I. Calegari, D. Franciotta, R. Rojas-Garcia, I. Illa, J. Clarimon, L. Querol

Abstract

ObjectiveMutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. We hypothesized that mutations in CD59 might be found in a subset of sporadic CIDP patients.\n\nMethods5 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were included. CD59 coding region was amplified by PCR and Sanger sequenced.\n\nResultsOne rare variant was detected in a patient which resulted in a synonymous change and predicted to be neutral. Pathogenic variants were absent in our cohort.\n\nInterpretationOur pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.

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02 /Specification & Classification

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