hereditary autoinflammatory diseases

Summary

Summary: 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.

Top Publications

  1. Ombrello M, Kastner D. Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons. Nat Rev Rheumatol. 2011;7:82-4 pubmed publisher
  2. de Koning H, Schalkwijk J, Van der Meer J, Simon A. Successful canakinumab treatment identifies IL-1? as a pivotal mediator in Schnitzler syndrome. J Allergy Clin Immunol. 2011;128:1352-4 pubmed publisher
  3. Rowczenio D, Trojer H, Russell T, Baginska A, Lane T, Stewart N, et al. Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature. Arthritis Res Ther. 2013;15:R30 pubmed publisher
    ..However, the remarkable response to interleukin 1 (IL-1) blockade in all but one individual in our series confirms that their clinical features are indeed mediated by IL-1. ..
  4. Hemminki K, Li X, Forsti A, Sundquist J, Sundquist K. Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. BMC Med Genet. 2013;14:88 pubmed publisher
  5. Hodgson K, Crawford N, Akikusa J. Recurrent fevers in children: TRAPS for young players. BMJ Case Rep. 2014;2014: pubmed publisher
    ..The concept of autoinflammatory diseases is discussed and the management of this condition reviewed. ..
  6. Igawa S, Di Nardo A. Skin microbiome and mast cells. Transl Res. 2017;184:68-76 pubmed publisher
    ..The present review intends to quell the controversy by illuminating the communication mechanism between bacteria and MCs. ..
  7. Metzger J, Nolte A, Uhde A, Hewicker Trautwein M, Distl O. Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics. 2017;18:348 pubmed publisher
    ..The results of this study give strong evidence for a variant in MTBP related with proinflammatory processes via MTBP-MDM2 pathway. Thus, these results enable a reliable detection of SPAID in Shar-Pei dogs. ..
  8. Manthiram K, Zhou Q, Aksentijevich I, Kastner D. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017;18:832-842 pubmed publisher
    ..We also explore the overlap among autoinflammation, autoimmunity and immunodeficiency, and pose a series of unanswered questions that are expected to be central in autoinflammatory disease research in the coming decade. ..
  9. Urien S, Bardin C, Bader Meunier B, Mouy R, Compeyrot Lacassagne S, Foissac F, et al. Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes. BMC Pharmacol Toxicol. 2013;14:40 pubmed publisher
    ..Based on effects in SJIA, a prospective dosage adjustment was proposed based on a 0.4 mg/L Css target in order to obtain a CRP decrease to 10 mg/L or below. ..

More Information

Publications13

  1. Ochs H, Hagin D. Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment. Ann Allergy Asthma Immunol. 2014;112:489-95 pubmed publisher
  2. Brehm A, Liu Y, Sheikh A, MARRERO B, Omoyinmi E, Zhou Q, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015;125:4196-211 pubmed publisher
    ..Our results provide further insight into CANDLE genetics and link global proteasome dysfunction to increased type I IFN production. ..
  3. Wittkowski H, Hinze C, Häfner Harms S, Oji V, Masjosthusmann K, Monninger M, et al. Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature. Pediatr Rheumatol Online J. 2017;15:19 pubmed publisher
    ..The diagnosis of SAID needs to be carefully reassessed if measurable systemic inflammation is missing, and MBPS should be included in the differential diagnosis. ..
  4. Ozen S, Demir S. Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. Paediatr Drugs. 2017;19:303-311 pubmed publisher
    ..Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined. ..