ArticleRespiratory research2018
G908R NOD2 variant in a family with sarcoidosis.
Article in Respiratory research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Lymphocyte signal transduction defects in cutaneous sarcoidosis and implications for treatment.Frontiers in immunology · 2026Review
- Immunopathogenesis of Sarcoidosis.Seminars in respiratory and critical care medicine · 2025Review
- Review
- Sarcoidosis: molecular mechanisms and therapeutic strategies.Molecular biomedicine · 2025Review
- Exploring the role of NOD2 variants in pediatric undifferentiated recurrent fever: a clinical and functional perspective.Frontiers in immunology · 2025Article
- Impact of Interleukin-17 Receptor A Gene Variants on Asthma Susceptibility and Clinical Manifestations in Children and Adolescents.Children (Basel, Switzerland) · 2024Article
- Review
- Immune mechanisms of granuloma formation in sarcoidosis and tuberculosis.The Journal of clinical investigation · 2024Review
- Differential diagnosis of pulmonary sarcoidosis: a review.Frontiers in medicine · 2023Review
- Autoantibodies against cytoskeletons and lysosomal trafficking discriminate sarcoidosis from healthy controls, tuberculosis and lung cancers.Molecular biomedicine · 2022Article
- BATF2 and PDK4 as diagnostic molecular markers of sarcoidosis and their relationship with immune infiltration.Annals of translational medicine · 2022Article
- Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.Journal of clinical immunology · 2021Article
- Inborn Errors in the LRR Domain of Nod2 and Their Potential Consequences on the Function of the Receptor.Cells · 2021Review
- Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts.Journal of clinical medicine · 2020Review
- Models Contribution to the Understanding of Sarcoidosis Pathogenesis: "Are There Good Models of Sarcoidosis?"Journal of clinical medicine · 2020Review
- Article
- Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.Human genetics · 2018Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSarcoidosis 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.
methodsSarcoidosis 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.
resultsIn 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 the presence of three additional SNPs for the IL17RA, KALRN and EPHA2 genes, which discriminate patients expressing the disease from others. Despite a decrease in NF-κB activity, IL-8 and TNF-A mRNA levels were increased at baseline and in stimulated conditions.
conclusionsCombination of polymorphisms in the NOD2, IL17RA, EPHA2 and KALRN genes could play a significant role in the development of sarcoidosis by maintaining a chronic pro-inflammatory status in macrophages.
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