ReviewClinical rheumatology2015
Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature.
Review in Clinical rheumatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Resolving the field: a role for Nod2 in T cells.Journal of immunology (Baltimore, Md. : 1950) · 2025Review
- Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome.Clinical rheumatology · 2024Article
- Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.Journal of neurology · 2022Observational
- Biologic Therapies for the Management of Cutaneous Findings in Genodermatoses: A Review.American journal of clinical dermatology · 2022Review
- Strong association of common variants in the miRNA-binding site of NOD2 gene with clinicopathological characteristics and disease activity of systemic lupus erythematosus.Clinical rheumatology · 2021Article
- Acute Arthritis in Children: How to Discern between Septic and Non-Septic Arthritis?Children (Basel, Switzerland) · 2021Review
- Article
- Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.Archives of rheumatology · 2020Article
- Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome.Arthritis research & therapy · 2019Review
- Early diagnosis of early-onset sarcoidosis: a case report with functional analysis and review of the literature.Clinical rheumatology · 2017Review
- Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis.International ophthalmology · 2016Article
- The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.Clinical rheumatology · 2015Review
- Interleukin-1 as a common denominator from autoinflammatory to autoimmune disorders: premises, perils, and perspectives.Mediators of inflammation · 2015Review
- A new mutation in blau syndrome.Case reports in rheumatology · 2015Article
- Blau Syndrome (Juvenile Systemic Granulomatosis): State-Of-The-Art Review.Pediatric dermatologyReview
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding for the nucleotide-binding domain region of the NOD2/CARD15 gene with subsequent dysregulation of the inflammatory response and formation of noncaseous granulomas. They include Blau syndrome (BS) and early-onset sarcoidosis (EOS); both are clinically and genetically indistinguishable between them and they are the familial (autosomal dominantly inherited) and sporadic forms of the same disease, respectively. We describe a case of EOS, misdiagnosed for 30 years such as "juvenile rheumatoid arthritis" before and "classic sarcoidosis" later. In our patient, we found a new de novo mutation (E383G) in NOD2 that has been reported only in a family of Japanese patients with BS. After long-term follow-up (42 months), infliximab maintained good efficacy and safety without any sign of disease relapse and side effects.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.