Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome

Autor: Vivien R. Schack, Morten K. Herlin, Henrik Pedersen, J. Magnus Bernth Jensen, Mia Færch, Bettina Bundgaard, Rasmus K. Jensen, Uffe B. Jensen, Rikke Christensen, Gregers R. Andersen, Steffen Thiel, Per Höllsberg

Publikováno v: Schack, V R, Herlin, M K, Pedersen, H, Jensen, J M B, Faerch, M, Bundgaard, B, Jensen, R K, Jensen, U B, Christensen, R, Andersen, G R, Thiel, S & Höllsberg, P 2022, ' Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome ', European Journal of Immunology, vol. 52, no. 10, pp. 1610-1619 . https://doi.org/10.1002/eji.202249838

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy that may lead to organ failure. Dysregulation of the complement system can cause aHUS, and various disease-related variants in the complement regulatory protein CD46 are descri

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https://doi.org/10.1002/eji.202249838