Cryopyrin-Associated Periodic Syndromes

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)


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
2. canakinumabFDA Link
3. Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link
4. autosomal dominant familial Periodic feverIBA
5. rilonaceptFDA Link
6. Interleukin-1 Receptors (Interleukin 1 Receptor)IBA
7. Immunoglobulin G (IgG)IBA
8. Thalidomide (Thalomid)FDA Link
9. InterleukinsIBA
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)
2. Injections
3. Kidney Transplantation
4. Therapeutics
5. Renal Dialysis (Hemodialysis)