Article
CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2018
Klemann Christian, Kirschner Janbernd, Ammann Sandra, Urbach Horst, Moske-Eick Olaf, Zieger Barbara, Lorenz Myriam Ricarda, Schwarz Klaus, Doostkam Soroush, Ehl Stephan, Korinthenberg Rudolf
Abstract excerpt
CD59 is involved in lymphocyte signal transduction and regulates complement-mediated cell lysis by inhibiting the membrane attack complex. In the cases reported so far, congenital isolated CD59 deficiency was associated with recurrent episodes of hemolytic anemia, peripheral neuropathy, and strokes. Here, we report on a patient from a consanguineous Turkish family, who had a first episode of hemolytic anemia at...
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