G908R NOD2 variant in a family with sarcoidosis.

ABSTRACT:

Background

Sarcoidosis is a systemic disease characterized by the formation of immune granulomas in various organs, mainly the lungs and the lymphatic system. Exaggerated granulomatous reaction might be triggered in response to unidentified antigens in individuals with genetic susceptibility. The present study aimed to determine the genetic variants implicated in a familial case of sarcoidosis.

Methods

Sarcoidosis presentation and history, NOD2 profile, NF-κB and cytokine production in blood monocytes/macrophages were evaluated in individuals from a family with late appearance of sarcoidosis.

Results

In the present study, we report a case of familial sarcoidosis with typical thoracic sarcoidosis and carrying the NOD2 2722G > C variant. This variant is associated with

SUBMITTER: Besnard V 

PROVIDER: S-EPMC5859391 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature