atypical hemolytic uremic syndrome (aHUS)
complement
copy number variations (CNVs)
eculizumab
factor H (FH)
factor H-related proteins (FHRs)
single molecule real-time (SMRT)
structural variants (SVs)
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2022
2022
Historique:
received:
04
08
2022
accepted:
28
12
2022
entrez:
16
2
2023
pubmed:
17
2
2023
medline:
18
2
2023
Statut:
epublish
Résumé
Atypical hemolytic uremic syndrome (aHUS) is a rare disease that manifests with microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure, and is associated with dysregulation of the alternative complement pathway. The chromosomal region including In this study, we report the results of We found uncommon SVs in 8% of patients with primary aHUS: 70% carried rearrangements involving In conclusion, these data highlight that uncommon
Identifiants
pubmed: 36793547
doi: 10.3389/fimmu.2022.1011580
pmc: PMC9923232
doi:
Substances chimiques
Complement Factor H
80295-65-4
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1011580Informations de copyright
Copyright © 2023 Piras, Valoti, Alberti, Bresin, Mele, Breno, Liguori, Donadelli, Rigoldi, Benigni, Remuzzi and Noris.
Déclaration de conflit d'intérêts
MN has received honoraria from Alexion Pharmaceuticals for giving lectures, and for participating in advisory boards, and she has received research grants from Omeros, Gemini, Novartis and BioCryst Pharmaceuticals. AB has received honoraria from Alexion Phamaceuticals and BioCryst Pharmaceuticals. GR has consultancy agreements with AbbVie, Alexion Pharmaceuticals, Novartis Pharma and BioCryst Pharmaceuticals. Since 1st May 2022, the co-author EV has been employed by Frontiers Media SA. EV declared her affiliation with Frontiers, and the handling Editor states that the process nevertheless met the standards of a fair and objective review. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be constructed as a potential conflict of interest.
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