Caspase-8 Deficiency

Common Name(s)

Caspase-8 Deficiency

Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by {2:Madkaikar et al., 2011}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Caspase-8 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 "Caspase-8 Deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings.
 

Author(s): Julie Niemela, Hye Sun Kuehn, Corin Kelly, Mingchang Zhang, Joie Davies, Jose Melendez, Jennifer Dreiling, David Kleiner, Katherine Calvo, João B Oliveira, Sergio D Rosenzweig

Journal: J. Clin. Immunol.. 2015 May;35(4):348-55.

 

Caspase-8 deficiency (CED) was originally described in 2002 in two pediatric patients presenting with clinical manifestations resembling autoimmune lymphoproliferative syndrome (ALPS) accompanied by infections, and T, B and NK cell defects. Since then, no new CED patients were published. ...

Last Updated: 20 May 2015

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Reviews from the PubMed Database

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The terms "Caspase-8 Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.