ReviewFrontiers in immunology2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Review in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 46 citations in OpenAlex.
- Clinical and laboratory manifestations and treatment of children withWorld journal of clinical pediatrics · 2026Article
- Living with a systemic autoinflammatory disease: burden of disease and effects on quality of life-an international patient survey.EULAR rheumatology open · 2026Article
- Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry.Rheumatology and therapy · 2025Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
- The expanding clinical spectrum of autoinflammatory diseases withFrontiers in immunology · 2024Review
- Review
- Patients Without a Rheumatic Disease Diagnosis in a Pediatric Rheumatology Unit: Retrospective Analysis and Comparison Between Pre-pandemic and Pandemic Periods.Turkish archives of pediatrics · 2023Article
- Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations inFrontiers in immunology · 2023Article
- Directionality of PYD filament growth determined by the transition of NLRP3 nucleation seeds to ASC elongation.Science advances · 2022Article
- The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.Journal of multidisciplinary healthcare · 2022Article
- Inflammasomes and Childhood Autoimmune Diseases: A Review of Current Knowledge.Clinical reviews in allergy & immunology · 2021Review
- Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation.Biomolecules · 2021Article
- Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (Central-European journal of immunology · 2021Article
- Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.Frontiers in immunology · 2021Review
- Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.Frontiers in genetics · 2021Article
- Article
- Lessons from dermatology about inflammatory responses in Covid-19.Reviews in medical virology · 2020Review
- Are the cutaneous manifestations during or due to SARS-CoV-2 infection/COVID-19 frequent or not? Revision of possible pathophysiologic mechanisms.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2020Review
- Disease Severity and Genotype Affect Physical Growth in Children With Familial Mediterranean Fever.Archives of rheumatology · 2019Article
- Natural Killer Cells in Systemic Autoinflammatory Diseases: A Focus on Systemic Juvenile Idiopathic Arthritis and Macrophage Activation Syndrome.Frontiers in immunology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoinflammatory diseases (AIDs) are a genetically heterogeneous group of diseases caused by mutations of genes encoding proteins, which play a pivotal role in the regulation of the inflammatory response. In the pathogenesis of AIDs, the role of the genetic background is triggered by environmental factors through the modulation of the innate immune system. Monogenic AIDs are characterized by Mendelian inheritance and are caused by highly penetrant genetic variants in single genes. During the last years, remarkable progress has been made in the identification of disease-associated genes by using new technologies, such as next-generation sequencing, which has allowed the genetic characterization in undiagnosed patients and in sporadic cases by means of targeted resequencing of a gene panel and whole exome sequencing. In this review, we delineate the genetics of the monogenic AIDs, report the role of the most common gene mutations, and describe the evidences of the most sound genotype/phenotype correlations in AID.
Indexed as
Identifiers
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.