Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Synonyms: NLRC4-related MAS | NLRC4-related autoinflammatory syndrome with MAS | NLRC4-related autoinflammatory syndrome with macrophage activation syndrome | NLRC4-related infantile enterocolitis-autoinflammatory syndrome | NLRC4-related macrophage activation syndrome
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age) periodic fever and episodes of severe systemic inflammation which may be precipitated by infections stress or fatigue. Signs and symptoms include splenomegaly urticaria-like rashes arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin C-reactive protein) pancytopenia and elevated transaminases. If left untreated flares can progress to coagulopathy organ failure and death.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Periodic fever-infantile enterocolitis-autoinflammatory syndrome?
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Advocacy Organizations
Autoimmune Registry Inc.
Autoimmune Registry, Inc., ARI, is a 501(c)(3) non-profit umbrella organization that provides a hub for research, statistics, and patient data on all autoimmune diseases. Since 2016 we have operated a database for patients who suffer from any autoimmune disease. Our mission is to reduce the time of diagnosis, support research, compute prevalence statistics, and establish autoimmune disease as a major class of disease so that it receives the awareness of the public, the attention of healthcare providers, and the appropriate funding needed to improve upon existing treatment protocols and disease management strategies.
Autoinflammatory Alliance
https://autoinflammatory.org
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Clinical Trials
For a list of clinical trials in this disease area, please click here.