ReviewClinical reviews in allergy & immunology2018
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
Review in Clinical reviews in allergy & immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 51 citations in OpenAlex.
- Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.Frontiers in pediatrics · 2025Article
- Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency.Global pediatric health · 2023Article
- Frequencies of theBalkan journal of medical genetics : BJMG · 2021Article
- Overview of the rarest causes of fever in newborns: handy hints for the neonatologist.Journal of perinatology : official journal of the California Perinatal Association · 2021Review
- Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.International journal of environmental research and public health · 2021Article
- Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant inJournal of clinical medicine · 2021Article
- IL-1/IL-1R Signaling in Head and Neck Cancer.Frontiers in oral health · 2021Review
- Autoinflammatory Diseases in ChildhoodBalkan medical journal · 2020Article
- Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.Mediators of inflammation · 2019Review
- Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans.Mediterranean journal of hematology and infectious diseases · 2019Review
- Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a commonScience immunology · 2018Article
- Using the Electronic Medical Record to Correlate Kawasaki Disease Phenotypes With Clinical Outcomes.Journal of the Pediatric Infectious Diseases Society · 2018Article
- A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.Journal of medical case reports · 2018Article
- The Emerging Role of Inflammasomes as Central Mediators in Inflammatory Bladder Pathology.Current urology · 2018Review
- Tumor necrosis factor-associated periodic syndrome in adults.Rheumatology international · 2018Review
- The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.Mediterranean journal of hematology and infectious diseases · 2018Review
- The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.Internal and emergency medicine · 2017Article
- Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever andClinical case reports · 2017Article
- An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease.Rambam Maimonides medical journal · 2017Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Innate immunity is a critical partner in the regulation of inflammation and some mutations in genes implied in innate immunity pathways can cause genetic disorders characterized by seemingly unprovoked self-limited inflammatory attacks. These rare conditions are collectively named "hereditary periodic fever syndromes" (HPFS), and protean pathogenetic mechanisms combined with several clinical phenotypes characterize at least four distinct conditions: (1) familial Mediterranean fever, which is the prototype and the most widely recognized among HPFS, inherited as an autosomal recessive disorder showing recurrent dysregulated inflammatory processes, caused by an abnormal interaction between cytoskeleton and inflammasome, a key-signaling platform that releases interleukin-1β (IL-1β); (2) the group of cryopyrin-associated periodic syndrome, which upsets directly the production of IL-1β, with a dominant pattern of inheritance; (3) tumor necrosis factor receptor-associated periodic syndrome, which is an autosomal dominant disorder subverting the functions and traffic of a cell membrane protein; and (4) mevalonate kinase deficiency, which is an autosomal recessive metabolic disorder halting the biosynthesis of cholesterol. MEFV, NLRP3, TNFRSF1A, and MVK are respectively the four causing genes of these conditions, all resulting in excessive IL-1β signaling, though the encoded proteins act at different levels in cytoskeletal filament organization, apoptosis, and activation of the IL-1β-structured inflammasome. The differential diagnosis of HPFS can be challenging, as there are no universally accepted diagnostic algorithms, and near half of patients may have a specific disease without any genetic pathogenetic variant identified. Herein, we outline the most relevant aspects of HPFS at the crossroads between clinical medicine and immunology and all the most recent advances in their treatment, as the increasing use of IL-1 antagonists has achieved unexpected clinical results in a large number of patients.
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