Cd59 deficiency

Common Name(s)

Cd59 deficiency

CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by {5:Nevo et al., 2013}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cd59 deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cd59 deficiency" returned 5 free, full-text research articles on human participants. First 3 results:

Targeted therapy with eculizumab for inherited CD59 deficiency.
 

Author(s): Britta Höchsmann, Christian Dohna-Schwake, Henriette A Kyrieleis, Ulrich Pannicke, Hubert Schrezenmeier

Journal: N. Engl. J. Med.. 2014 Jan;370(1):90-2.

 

Last Updated: 2 Jan 2014

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CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.
 

Author(s): Yoram Nevo, Bruria Ben-Zeev, Adi Tabib, Rachel Straussberg, Yair Anikster, Zamir Shorer, Aviva Fattal-Valevski, Asaf Ta-Shma, Sharon Aharoni, Malcolm Rabie, Shamir Zenvirt, Hanoch Goldshmidt, Yakov Fellig, Avraham Shaag, Dror Mevorach, Orly Elpeleg

Journal: Blood. 2013 Jan;121(1):129-35.

 

CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59. ...

Last Updated: 4 Jan 2013

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Deficiency of complement defense protein CD59 may contribute to neurodegeneration in Alzheimer's disease.
 

Author(s): L B Yang, R Li, S Meri, J Rogers, Y Shen

Journal: J. Neurosci.. 2000 Oct;20(20):7505-9.

 

Complement defense 59 (CD59) is a cell surface glycophosphoinositol (GPI)-anchored protein that prevents complement membrane attack complex (MAC) assembly. Here, we present evidence from ELISA assays that CD59 protein levels are significantly decreased in the frontal cortex and hippocampus ...

Last Updated: 16 Oct 2000

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Reviews from the PubMed Database

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The terms "Cd59 deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

An Open Label Study of the Effects of Eculizumab in CD59 Deficiency
 

Status: Recruiting

Condition Summary: Chronic Hemolysis

 

Last Updated: 17 Apr 2012

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