Journal
JOURNAL OF CLINICAL MEDICINE
Volume 9, Issue 8, Pages -Publisher
MDPI
DOI: 10.3390/jcm9082633
Keywords
sarcoidosis; genetics; T cell activation; mTOR; autophagy; innate immunity
Categories
Funding
- Fondation maladies Rares (FMR-France)
- INNOVARC-DGOS [12-027-0309]
- Austrian Science Fund (FWF) [P27701-B20, P30857-B28]
- Foundation of Sarcoidosis Research
- Austrian Science Fund (FWF) [P30857] Funding Source: Austrian Science Fund (FWF)
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Sarcoidosis is a complex disease that belongs to the vast group of autoinflammatory disorders, but the etiological mechanisms of which are not known. At the crosstalk of environmental, infectious, and genetic factors, sarcoidosis is a multifactorial disease that requires a multidisciplinary approach for which genetic research, in particular, next generation sequencing (NGS) tools, has made it possible to identify new pathways and propose mechanistic hypotheses. Codified treatments for the disease cannot always respond to the most progressive forms and the identification of new genetic and metabolic tracks is a challenge for the future management of the most severe patients. Here, we review the current knowledge regarding the genes identified by both genome wide association studies (GWAS) and whole exome sequencing (WES), as well the connection of these pathways with the current research on sarcoidosis immune-related disorders.
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