Cargando…

Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal failure. It is caused by genetic or acquired defects of the complement alternative pathway. Factor H autoantibodies (anti-FHs) have been reported in 10% of aHUS...

Descripción completa

Detalles Bibliográficos
Autores principales:	Valoti, Elisabetta, Alberti, Marta, Iatropoulos, Paraskevas, Piras, Rossella, Mele, Caterina, Breno, Matteo, Cremaschi, Alessandra, Bresin, Elena, Donadelli, Roberta, Alizzi, Silvia, Amoroso, Antonio, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504697/ https://www.ncbi.nlm.nih.gov/pubmed/31118930 http://dx.doi.org/10.3389/fimmu.2019.00853

Ejemplares similares

CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis
por: Piras, Rossella, et al.
Publicado: (2021)

Unraveling the Molecular Mechanisms Underlying Complement Dysregulation by Nephritic Factors in C3G and IC-MPGN
por: Donadelli, Roberta, et al.
Publicado: (2018)

Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant
por: Piras, Rossella, et al.
Publicado: (2020)

CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome
por: Piras, Rossella, et al.
Publicado: (2023)

An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome
por: Gastoldi, Sara, et al.
Publicado: (2023)

Pregnancy-triggered atypical hemolytic uremic syndrome (aHUS): a Global aHUS Registry analysis
por: Fakhouri, Fadi, et al.
Publicado: (2021)

C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19
por: Aiello, Sistiana, et al.
Publicado: (2022)

Remission of aHUS neurological damage with eculizumab
por: Ávila, Ana, et al.
Publicado: (2015)

Eculizumab and aHUS: Spotlight on Patient-Centered Care
por: Rafat, Cédric, et al.
Publicado: (2020)

Immunosuppressive Therapy of Antibody-Mediated aHUS and TTP
por: Kelen, Kata, et al.
Publicado: (2023)

aHUS caused by complement dysregulation: new therapies on the horizon
por: Waters, Aoife M., et al.
Publicado: (2010)

Complement therapy in atypical haemolytic uraemic syndrome (aHUS)
por: Wong, Edwin K.S., et al.
Publicado: (2013)

The global aHUS registry: methodology and initial patient characteristics
por: Licht, Christoph, et al.
Publicado: (2015)

Ravulizumab for the Treatment of aHUS in Adults: Improving Quality of Life
por: Legendre, Christophe, et al.
Publicado: (2021)

Prognostic utility of ADAMTS13 activity for the atypical hemolytic uremic syndrome (aHUS) and comparison of complement serology between aHUS and thrombotic thrombocytopenic purpura
por: Oh, Jisu, et al.
Publicado: (2019)

A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by Neanderthals
por: Breno, Matteo, et al.
Publicado: (2023)

Erratum to: aHUS caused by complement dysregulation: new therapies on the horizon
por: Waters, Aoife M., et al.
Publicado: (2012)

Can eculizumab be discontinued in aHUS?: Case report and review of the literature
por: Sahutoglu, Tuncay, et al.
Publicado: (2016)

Eculizumab Treatment for Postpartum HELLP Syndrome and aHUS—Case Report
por: Lokki, A. Inkeri, et al.
Publicado: (2020)

Case Report: Variable Pharmacokinetic Profile of Eculizumab in an aHUS Patient
por: Bouwmeester, Romy N., et al.
Publicado: (2021)

Underlying Genetics of aHUS: Which Connection with Outcome and Treatment Discontinuation?
por: Spasiano, Andrea, et al.
Publicado: (2023)

A systematic review of eculizumab for atypical haemolytic uraemic syndrome (aHUS)
por: Rathbone, John, et al.
Publicado: (2013)

Functional similarity of ABP 959 and eculizumab in simulated serum models of aHUS and NMOSD
por: McBride, Helen J., et al.
Publicado: (2023)

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification
por: Martín Merinero, Hector, et al.
Publicado: (2021)

Functional Assessment of Fatigue and Other Patient-Reported Outcomes in Patients Enrolled in the Global aHUS Registry
por: Greenbaum, Larry A., et al.
Publicado: (2020)

Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis
por: Klämbt, Verena, et al.
Publicado: (2020)

The case of complement activation in COVID-19 multiorgan impact
por: Noris, Marina, et al.
Publicado: (2020)

Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS
por: Ermini, Luca, et al.
Publicado: (2012)

An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry
por: Woodward, Len, et al.
Publicado: (2016)

The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report
por: Lumbreras, Javier, et al.
Publicado: (2020)

Mikroangiopathien in der Schwangerschaft: HELLP/aHUS/TTP unter Berücksichtigung von COVID-19 in der Schwangerschaft
por: Abou-Dakn, Michael
Publicado: (2022)

Atypical hemolytic uremic syndrome (aHUS) responsive to mycophenolate mofetil: A case report from Nepal
por: Gurung, Jyoti, et al.
Publicado: (2022)

Blockade of the Terminal Complement Cascade Using Ravulizumab in a Pediatric Patient With Anti-complement Factor H Autoantibody-Associated aHUS: A Case Report and Literature Review
por: Wu, Xiaoyan, et al.
Publicado: (2021)

Reduced dose maintenance eculizumab in atypical hemolytic uremic syndrome (aHUS): an update on a previous case report
por: Ohanian, Maro, et al.
Publicado: (2011)

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding
por: Volokhina, Elena, et al.
Publicado: (2012)

Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry
por: Vaisbich, Maria Helena, et al.
Publicado: (2022)

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD
por: Wong, Edwin K. S., et al.
Publicado: (2021)

Thrombotic microangiopathy (aHUS/iTTP) reported so far in Covid-19 patients: The virus alone or an omnium gatherum of mechanisms and etiologies?
por: Mir, Tajamul H.
Publicado: (2021)

Clinical characteristics and outcomes of a patient population with atypical hemolytic uremic syndrome and malignant hypertension: analysis from the Global aHUS registry
por: Halimi, Jean-Michel, et al.
Publicado: (2022)

Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies
por: Münch, Johannes, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_uu03unncfiv8k16unrtvro3a8h