ReviewOrphanet journal of rare diseases2013
The expanding spectrum of rare monogenic autoinflammatory diseases.
Review in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
The trial behind it
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
8 citing papers in PubMed, 30 citations in OpenAlex.
- Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians.Journal of pediatric genetics · 2023Article
- Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.Pediatric rheumatology online journal · 2019Article
- The H Syndrome: A Genodermatosis.Cureus · 2018Article
- Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center.World journal of clinical pediatrics · 2018Article
- CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.Frontiers in immunology · 2017Review
- Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey.Orphanet journal of rare diseases · 2015Article
- Practical aspects of genome-wide association interaction analysis.Human genetics · 2014Review
- Eyelid squamous cell carcinoma in the setting of epidermodysplasia verruciformis (EV) diagnosed by next-generation sequencing: A case report and literature review.Advances in ophthalmology practice and researchArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same group. The mutated proteins can be directly or indirectly involved in the regulation of inflammation. The available literature includes numerous reviews, which address the principle diseases, but we wanted to focus on the most recent rare syndromes. A comprehensive review is thus provided, including taxonomic, genetic, and epidemiological data, along with characteristics defining positive and differential diagnoses and treatment. We believe that this update will assist physicians in correctly naming their patient's illness. This is an essential step for the effective and targeted management of an orphan disease.
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What OpenQuestion holds
Registered trials
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.