Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/30628
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dc.contributor.authorTorrelo, Antonio
dc.date.accessioned2019-06-28T16:19:33Z-
dc.date.available2019-06-28T16:19:33Z-
dc.date.issued2017
dc.identifier.citationFront Immunol.2017;(8):927
dc.identifier.issn1664-3224
dc.identifier.urihttps://hdl.handle.net/20.500.12530/30628-
dc.description.abstractCANDLE syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is a rare, genetic autoinflammatory disease due to abnormal functioning of the multicatalytic system proteasome-immunoproteasome. Several recessive mutations in different protein subunits of this system, located in one single subunit (monogenic, homozygous, or compound heterozygous) or in two different ones (digenic and compound heterozygous), cause variable defects in catalytic activity of the proteasome-immunoproteasome. The final result is a sustained production of type 1 interferons (IFNs) that can be very much increased by banal triggers such as cold, stress, or viral infections. Patients start very early in infancy with recurrent or even daily fevers, characteristic skin lesions, wasting, and a typical fat loss, all conferring the patients a unique and unmistakable phenotype. So far, no treatment has been effective for the treatment of CANDLE syndrome; the JAK inhibitor baricitinib seems to be partially helpful. In this article, a review in depth all the pathophysiological, clinical, and laboratory features of CANDLE syndrome is provided.
dc.language.isoeng
dc.rightsopenAccess-
dc.subjectCANDLE
dc.subjectautoinflammation
dc.subjectimmunoproteasome
dc.subjectinterferonopathy
dc.subjectneutrophilic dermatosis
dc.subjectproteasome
dc.titleCANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.
dc.typeArtículo
dc.identifier.pubmedID28848544
dc.format.volume8
dc.format.page927
dc.identifier.journalFrontiers in immunology
dc.identifier.doi10.3389/fimmu.2017.00927
dc.identifier.pmcPMC5552674
dc.pubmedtypeJournal Article
dc.pubmedtypeReview
Appears in Collections:Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos

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