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

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 described. We here report a pediatric patient with aHUS...

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Detalles Bibliográficos
Autores principales: Schack, Vivien R., Herlin, Morten K., Pedersen, Henrik, Jensen, J. Magnus Bernth, Færch, Mia, Bundgaard, Bettina, Jensen, Rasmus K., Jensen, Uffe B., Christensen, Rikke, Andersen, Gregers R., Thiel, Steffen, Höllsberg, Per
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Immunodeficiencies and autoimmunity
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804674/
https://www.ncbi.nlm.nih.gov/pubmed/35987516
http://dx.doi.org/10.1002/eji.202249838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804674/
https://www.ncbi.nlm.nih.gov/pubmed/35987516
http://dx.doi.org/10.1002/eji.202249838

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