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Cryopyrin-Associated Periodic Syndromes

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A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.

Also Known As:

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome; Cold Urticaria, Familial; Cold Urticarias, Familial; Cryopyrin Associated Periodic Syndromes; Cryopyrin-Associated Periodic Syndrome; Cryopyrinopathies; Familial Cold Urticarias; IOMIDs; Muckle Wells Syndrome; Multisystem Inflammatory Disease, Neonatal Onset; Periodic Syndrome, Cryopyrin-Associated; Periodic Syndromes, Cryopyrin-Associated; Syndrome, Cryopyrin-Associated Periodic; Syndrome, Muckle-Wells; Syndromes, Cryopyrin-Associated Periodic; Urticaria, Familial Cold; Urticarias, Familial Cold; CINCA Syndrome; Chronic Infantile Neurological, Cutaneous, and Articular Syndrome; Cryopyrinopathy; Familial Cold Autoinflammatory Syndrome; Familial Cold Urticaria; IOMID; Infantile Onset Multisystem Inflammatory Disease; Muckle-Wells Syndrome; Multisystem Inflammatory Disease, Neonatal-Onset; NOMID; Neonatal Onset Multisystem Inflammatory Disease

Networked: 268 relevant articles (21 outcomes, 19 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Familial Mediterranean Fever (Periodic Disease)
2.	Mevalonate Kinase Deficiency
3.	Schnitzler Syndrome
4.	Arthritis (Polyarthritis)
5.	Juvenile Rheumatoid Arthritis (Juvenile Idiopathic Arthritis)

Experts

1.	Goldbach-Mansky, Raphaela: 20 articles (12/2015 - 12/2002)
2.	Gattorno, Marco: 13 articles (10/2015 - 09/2007)
3.	McDermott, Michael F: 13 articles (11/2010 - 12/2002)
4.	Rigante, Donato: 12 articles (08/2015 - 08/2009)
5.	Kuemmerle-Deschner, Jasmin B: 10 articles (09/2015 - 06/2009)
6.	Kastner, Daniel L: 10 articles (09/2015 - 12/2002)
7.	Hoffman, Hal M: 10 articles (04/2015 - 11/2004)
8.	Hawkins, Philip N: 10 articles (04/2014 - 02/2004)
9.	Aksentijevich, Ivona: 9 articles (09/2015 - 12/2002)
10.	Cantarini, Luca: 9 articles (09/2015 - 08/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cryopyrin-Associated Periodic Syndromes:

1.	Interleukin-1 (Interleukin 1)IBA 04/15/2006 - "A remarkable clinical and serological response to therapy was observed, suggesting that pharmacological inhibition of the IL-1 signaling pathway offers an important new treatment option for patients with NOMID." 01/01/2008 - "Robust evidence has emerged that IL-1beta oversecretion is pivotal in cryopyrin-associated periodic syndromes, and that IL-1 inhibition ameliorates the clinical features of these syndromes. " 12/01/2015 - "In addition, IL-1 triggered cell death in monocytes from NOMID patients. " 06/01/2015 - "Successful Treatment of CINCA/NOMID Syndrome with Interleukin-1 Blockade." 01/01/2014 - "Pathogenic variants in two interleukin-1 (IL-1)-regulating genes, NLRP3 and IL1RN, cause two severe and early-onset autoinflammatory syndromes, CAPS (cryopyrin associated periodic syndromes) and DIRA (deficiency of IL-1 receptor antagonist). "
2.	canakinumab FDA Link 01/01/2011 - "Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study." 01/01/2011 - "Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory?" 03/01/2013 - "Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results)." 12/01/2011 - "Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes." 09/01/2015 - "A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease."
3.	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 12/01/2007 - "Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra." 05/01/2005 - "Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome." 07/01/2012 - "This study was undertaken to evaluate the long-term effect of anakinra on clinical and laboratory outcomes and safety in patients with NOMID. " 11/01/2014 - "Six births from FCAS mothers and three births from NOMID mothers occurred while patients were receiving anakinra. " 11/01/2014 - "Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS)."
4.	autosomal dominant familial Periodic feverIBA 10/01/2015 - "Patients with common complex multifactorial diseases such as systemic-onset juvenile idiopathic arthritis (sJIA), and particularly those with rare monogenic autoinflammatory diseases such as cryopyrin-associated periodic syndromes (CAPS) or TNF receptor-associated periodic syndrome (TRAPS), benefited from a deeper understanding of the pathophysiological mechanisms and new treatment options emerging from preclinical studies. " 05/01/2013 - "In particular, we focused the attention on the more frequent conditions, familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS) and TNF-receptor associated periodic syndrome (TRAPS). " 09/01/2010 - "New knock in animal models for TNF-receptor-associated periodic syndrome, and familial Mediterranean fever and cryopyrin-associated periodic syndromes allow insights into the complexity of the dysregulated immune pathways. " 09/01/2009 - "The authors describe the clinical features of three patients whose diagnosis were the following: tumor necrosis factor receptor-associated periodic syndrome (TRAPS), chronic infantile neurological cutaneous articular (CINCA) syndrome and familial Mediterranean fever (FMF). " 01/01/2003 - "Minimal clinical variations, a unique biochemical-specific abnormality and the mode of genetic inheritance distinguish the four main diseases: familial Mediterranean fever, hyper-immunoglobulinemia D, TNF-receptor-associated periodic syndrome (TRAPS) and Muckle Wells syndrome. "
5.	rilonacept FDA Link 08/01/2008 - "Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies." 01/01/2010 - "Rilonacept in the management of cryopyrin-associated periodic syndromes (CAPS)." 06/01/2009 - "The initial evidence for the beneficial effects of rilonacept for MWS and FCAS suggests that it would also be a suitable treatment for CNICA/NOMID. " 04/01/2009 - "Rilonacept for the treatment of cryopyrin-associated periodic syndromes (CAPS)." 03/01/2009 - "Rilonacept (arcalyst), an interleukin-1 trap for the treatment of cryopyrin-associated periodic syndromes."
6.	Interleukin-1 Receptors (Interleukin 1 Receptor)IBA 04/01/2006 - "Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism." 08/01/2005 - "Successful treatment of acute visual loss in Muckle-Wells syndrome with interleukin 1 receptor antagonist." 03/01/2007 - "Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist." 08/01/2012 - "Anakinra (an interleukin 1 receptor antagonist) is now in widespread use to treat CINCA syndrome and is known to rapidly reverse the inflammatory features of CINCA syndrome. " 03/01/2008 - "Anakinra, a recombinant human interleukin 1 receptor antagonist, is a promising new biologic agent for the treatment of cryopyrinopathies as well other autoinflammatory diseases, such as tumor necrosis factor receptor-associated periodic syndrome and hyperimmunoglobulinemia D with periodic fever syndrome."
7.	Immunoglobulin G (IgG)IBA 01/01/2011 - "Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)." 09/01/2010 - "Two newer IL-1 antagonists have recently been approved for the treatment of CAPS (cryopyrin-associated periodic syndromes): Canakinumab, a fully human IL-1beta antibody, and rilonacept, a fusion protein consisting of the ligand-binding domain of the IL-1 receptor and the IL-1-receptor accessory protein, bound to human IgG1. "
8.	Thalidomide (Thalomid)FDA Link 05/01/2005 - "We propose that thalidomide can be beneficial in select patients with CINCA syndrome." 05/01/2005 - "The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide."
9.	InterleukinsIBA 04/01/2011 - "The study of patients with NOMID/CINCA has been instrumental in characterizing the extent of organ-specific inflammatory manifestations and damage that can occur with chronic interleukin (IL)-1β overproduction. " 03/01/2011 - "Cryopyrin-associated periodic syndromes (CAPS) consist of a continuum of autoinflammatory diseases caused by a defect in interleukin 1β regulation. " 01/01/2011 - "Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, inherited autoinflammatory disorders associated with aberrant secretion of interleukin (IL)-1. " 01/01/2015 - "Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. " 01/01/2015 - "Cryopyrin-associated periodic syndrome (CAPS) is caused by NLRP3 mutations, which result in dysregulated interleukin 1β (IL-1β) production and inflammation. "
10.	Synovitis granulomatous with uveitis and cranial neuropathiesIBA 02/01/2007 - "NALP3 and NOD2, which belong to a cytosolic subgroup of PRMs, dubbed Nod-like-receptors (NLRs), have been associated recently with inflammatory diseases, specifically Crohn's disease and Blau syndrome (NOD2) and familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous and articular syndrome (NALP3). " 04/01/2007 - "Recent studies have described the genetic association of polymorphisms in NOD-like receptor genes with complex chronic inflammatory barrier diseases, such as Crohn's disease and asthma and with rare auto-inflammatory syndromes including familial cold urticaria, Muckle-Wells syndrome and Blau syndrome. " 12/01/2012 - "The term autoinflammatory syndromes includes a broad variety of disorders, including cryopyrin-associated periodic syndromes (CAPS) such as neonatal onset multisystem inflammatory disease (NOMID), familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), periodic fever syndromes, including familial Mediterranean fever (FMF), TNF receptor-1 associated periodic syndrome (TRAPS), and Blau syndrome. " 03/29/2008 - "The present review is the second and last part of an updated and comprehensive overview of hereditary systemic autoinflammatory diseases, and will introduce persistent, non-periodic autoinflammatory diseases, such as: a) the group of cryopyrin-associated periodic syndromes (CAPS), which includes familial cold-induced autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, and CINCA-NOMID syndrome; b) the group of pediatric systemic granulomatosis, which includes both Blau syndrome and early-onset sarcoidosis, and c) the pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome." 02/01/2009 - "Taken together, these data suggest that in contrast to related IL-1beta-dependent autoinflammatory cryopyrinopathies, Blau syndrome is not mediated by excess IL-1beta or other IL-1 activity."

Therapies and Procedures

1.	Aftercare (After-Treatment) 05/01/2005 - "The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide." 01/01/2012 - "We compared the cellular infiltrates and transcriptome of skin biopsies from patients with NOMID (n = 14) before treatment (lesional (LS) and non-lesional (pre-NL) skin) and after treatment (post-NL) with the IL-1 blocker anakinra (recombinant IL-1 receptor antagonist, Kineret®, Swedish Orphan Biovitrum AB, SOBI), to normal skin (n = 5) to assess tissue responses in the context of untreated and treated disease. "
2.	Injections 08/10/2006 - "Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations. "
3.	Kidney Transplantation 12/01/2011 - "Successful renal transplantation in Muckle-Wells syndrome treated with anti-IL-1β-monoclonal antibody." 12/01/1989 - "Amyloid goiter and arthritides after kidney transplantation in a patient with systemic amyloidosis and Muckle-Wells syndrome."
4.	Therapeutics 06/01/2010 - "Cryopyrin-associated periodic syndromes: background and therapeutics." 05/01/2014 - "The pro-inflammatory cytokine interleukin (IL)-1β is a clinical target in many conditions involving dysregulation of the immune system; therapeutics that block IL-1β have been approved to treat diseases such as rheumatoid arthritis (RA), neonatal onset multisystem inflammatory diseases, cryopyrin-associated periodic syndromes, active systemic juvenile idiopathic arthritis. "
5.	Renal Dialysis (Hemodialysis) 07/12/1980 - "[Improvement of Muckle-Wells syndrome by hemodialysis]." 07/01/2010 - "Comparison of these results to those obtained in a population of patients with cryopyrin-associated periodic syndromes, a group of rare, inherited, autoinflammatory disorders (mean [SD] eGFR of 73.1 [13.3] mL/min/1.73m2), shows that ESRD and related hemodialysis procedures do not prolong the elimination of rilonacept, and therefore no dose adjustment should be needed relative to individuals with normal renal function."