A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

BACKGROUND AND OBJECTIVES: Atypical hemolytic uremic syndrome (aHUS) is mostly attributed to dysregulation of the alternative complement pathway (ACP) secondary to disease-causing variants in complement components or regulatory proteins. Hereditary aHUS due to C3 disruption is rare, usually caused b...

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Dettagli Bibliografici
Pubblicato in:Front Immunol
Autori principali: Pollack, Shirley, Eisenstein, Israel, Mory, Adi, Paperna, Tamar, Ofir, Ayala, Baris-Feldman, Hagit, Weiss, Karin, Veszeli, Nóra, Csuka, Dorottya, Shemer, Revital, Glaser, Fabian, Prohászka, Zoltán, Magen, Daniella
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2021
Soggetti:
Immunology
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8264753/
https://ncbi.nlm.nih.gov/pubmed/34248927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2021.608604
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