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Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis.

Autoimmunity reviews - 1 Dec 2014

Caso Francesco, Costa Luisa, Rigante Donato, Vitale Antonio, Cimaz Rolando, Lucherini Orso Maria, Sfriso Paolo, Verrecchia Elena, Tognon Sofia, Bascherini Vittoria, Galeazzi Mauro, Punzi Leonardo, Cantarini Luca

Abstract excerpt

Blau syndrome (BS) and early onset sarcoidosis (EOS) are, respectively, the familial and sporadic forms of the pediatric granulomatous autoinflammatory disease, which belong to the group of monogenic autoinflammatory syndromes. Both of these conditions are caused by mutations in the NOD2 gene, which encodes the cytosolic NOD2 protein, one of the pivotal molecules in the regulation of innate immunity, primarily...

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Identifiers

PMID: 25182201
DOI: 10.1016/j.autrev.2014.08.010

Genes

NOD2

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