Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

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Authors

KANDEROVA V. GROMBIRIKOVA H. ZENTSOVA I. RÉBLOVÁ Kamila KLOCPERK A. FEJTKOVA M. BLOOMFIELD M. RAVCUKOVA B. KALINA T. FREIBERGER Tomáš SEDIVA A.

Year of publication 2019
Type Article in Periodical
Magazine / Source Haematologica
MU Faculty or unit

Faculty of Medicine

Citation
Web http://www.haematologica.org/content/haematol/104/1/e32.full.pdf
Doi http://dx.doi.org/10.3324/haematol.2018.201673
Keywords ACTIVATION
Description Caspase-8 is a member of the aspartate-specific cysteine protease family that is typically synthetized as an inactive zymogen and activated upon an appropriate stimulus. Caspase-8 plays an essential role in apoptotic signal transduction from the death receptor. Recruitment of procaspase-8 into the death signaling complex leads to its dimerization, autoproteolytic cleavage and formation of a highly active heterotetramer. Caspase-8 subsequently activates caspase-3, thereby initiating the proteolytic pathway, and ultimately resulting in the apoptotic disassembly of the cell.1 Additionally, caspase-8 is also essential for various immune processes, such as lymphocyte activation, inflammasome regulation and cytokine production
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