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Hereditary Autoinflammatory Diseases

Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.
Also Known As:
Reimann Periodic Disease; Siegal-Cattan-Mamou Disease; Autoinflammation Disease, Hereditary; Autoinflammation Diseases, Hereditary; Autoinflammatory Disease, Hereditary; Autoinflammatory Diseases, Hereditary; Disease, Hereditary Autoinflammation; Disease, Hereditary Autoinflammatory; Disease, Reimann Periodic; Disease, Siegal-Cattan-Mamou; Diseases, Hereditary Autoinflammation; Diseases, Hereditary Autoinflammatory; Diseases, Reimann Periodic; Fever, Hereditary Recurrent; Fevers, Hereditary Recurrent; Hereditary Autoinflammation Disease; Hereditary Autoinflammatory Disease; Hereditary Recurrent Fever; Periodic Disease, Reimann; Periodic Diseases, Reimann; Recurrent Fever, Hereditary; Recurrent Fevers, Hereditary; Reimann Periodic Diseases; Siegal Cattan Mamou Disease; Hereditary Autoinflammation Diseases; Hereditary Periodic Fever Syndromes; Hereditary Recurrent Fevers
Networked: 43 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Inflammation (Inflammations)
2. Fever (Fevers)
3. Familial Mediterranean Fever (Periodic Disease)
4. Mevalonate Kinase Deficiency
5. Cryopyrin-Associated Periodic Syndromes

Experts

1. Gattorno, Marco: 3 articles (01/2018 - 11/2009)
2. Obici, Laura: 3 articles (01/2018 - 09/2004)
3. Belot, Alexandre: 2 articles (01/2021 - 01/2020)
4. Georgin-Lavialle, Sophie: 2 articles (01/2021 - 01/2020)
5. Hentgen, Véronique: 2 articles (01/2021 - 01/2020)
6. Koné-Paut, Isabelle: 2 articles (01/2021 - 01/2020)
7. Pillet, Pascal: 2 articles (01/2021 - 01/2020)
8. Grateau, Gilles: 2 articles (01/2020 - 02/2005)
9. Cantarini, Luca: 2 articles (06/2018 - 01/2018)
10. Rigante, Donato: 2 articles (06/2018 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Autoinflammatory Diseases:
1. Proteins (Proteins, Gene)FDA Link
2. AA amyloidosisIBA
3. InflammasomesIBA
07/01/2015 - "However, deregulated inflammasome signaling is increasingly linked to a diversity of human pathologies, including rheumatoid arthritis, inflammatory bowel disease, and rare, hereditary periodic fever syndromes. "
01/01/2012 - "Jurg led the biochemical characterization of the inflammasome complex and demonstrated that spontaneous hyperactivation of this interleukin (IL)-1β processing machinery is the molecular basis of a spectrum of hereditary periodic fever syndromes, caused by mutated forms of the inflammasome scaffolding receptor, NLRP3. "
10/01/2023 - "Most SAIDs are hereditary autoinflammatory diseases and develop by dysregulation of innate immunity through various pathways including inflammasomes, endoplasmic reticulum stress, nuclear factor-κB dysregulation, and interferon production. "
08/01/2018 - "Inflammasomes have also been involved in the pathogenesis of a wide range of autoinflammatory conditions that are caused by dysregulation of the IL-1 pathway, such as cryopyrinopathies and hereditary periodic fever syndromes. "
06/01/2018 - "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. "
4. InterleukinsIBA
01/01/2012 - "Jurg led the biochemical characterization of the inflammasome complex and demonstrated that spontaneous hyperactivation of this interleukin (IL)-1β processing machinery is the molecular basis of a spectrum of hereditary periodic fever syndromes, caused by mutated forms of the inflammasome scaffolding receptor, NLRP3. "
01/01/2020 - "Objectives: The major role of interleukin (IL)-1 in the pathogenesis of hereditary recurrent fever syndromes favored the employment of targeted therapies modulating IL-1 signaling. "
01/01/2013 - "Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases caused by mutations of the NLRP3 gene, and leads to excessive production of the proinflammatory cytokine, interleukin-lβ. "
06/01/2013 - "The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency."
5. Interleukin-1 (Interleukin 1)IBA
6. Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link
7. Immunoglobulin D (IgD)IBA
8. PyrinIBA
9. canakinumabFDA Link
10. Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA

Therapies and Procedures

1. Therapeutics