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Research References

Aróstegui, J. I., Lopez Saldaña, M. D., et al. (2010), A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. Arthritis & Rheumatism, 62: 1158–1166. doi: 10.1002/art.27342. http://onlinelibrary.wiley.com/doi/10.1002/art.27342/abstract

Cuisset L, et al. Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44. An. J. Hum. Genet. 1999; 65(5): 1054-59. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288238/?tool=gateway

Drenth JPH, van der Meer JWM. The inflammasome–A Linebacker of Innate Defense. N. Engl. J.Med. 2006; 355(7): 730-732. http://www.nejm.org/doi/full/10.1056/NEJMcibr063500

Federici, L., Rittore–Domingo, C., I, et al. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis. 2006 November; 65(11): 1427–1432. Published online 2006 May 17. doi: 10.1136/ard.2006.054304. Copyright © 2006 BMJ Publishing Group Ltd & European League Against Rheumatism. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1798342/?tool=pubmed

Grateau, G. Muckle-Wells. http://www.orpha.net/data/patho/FR/fr-muckle.pdf

Goldbach-Mansky R, Dailey NJ, et al. Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1 Beta Inhibition. N. Engl. J.Med. 2006 Aug 10; 355(6): 581-92.
http://www.nejm.org/doi/full/10.1056/NEJMoa055137#t=articleBackground

Hoffman, H. FCAS. http://www.orpha.net/data/patho/Pro/en/FamilialColdUrticaria-FRenPro10608.pdf

Hoffman HM, Mueller JL, et al. Mutation of a New Gene Encoding a Putative Pyrin-like Protein Causes FCAS and MWS. Nat. Genet. 2001; 29: 301-305. http://www.nature.com/ng/journal/v29/n3/full/ng756.html

Huttenlocher A, Frieden IJ, Emery H. Neonatal Onset Multisystem Inflammatory Disease. J. Rheumatol. 1995; 22(6): 1171-3.

Kastner DL. Hereditary Periodic Fever Syndromes. Hematology 2005 - American Society of Hematology Education Program. 2005: 74-81. http://asheducationbook.hematologylibrary.org/cgi/content/full/2005/1/74

Kieron S. Leslie; Helen J. Lachmann; Elizabeth Bruning; John A. McGrath; Alison Bybee; J. Ruth Gallimore; Philip F. Roberts; Patricia Woo; Clive E. Grattan; Philip N. Hawkins. Phenotype, Genotype, and Sustained Response to Anakinra in 22 Patients With Autoinflammatory Disease Associated With CIAS-1/NALP3 Mutations Arch Dermatol. 2006;142(12):1591-1597. http://archderm.ama-assn.org/cgi/content/full/142/12/1591#AUTHINFO (Excellent photos of CAPS eye issues)

Lachmann, HJ., and Hawkins, PN Developments in the scientific and clinical understanding of autoinflammatory disorders Arthritis Research & Therapy 2009, 11:212doi:10.1186/ar2579 http://arthritis-research.com/content/11/1/212 (Excellent images of various autoinflammatory diseases.)

NAKA, Erica Naomi; LEME, Ligia Maria and QUILIAO, Maria Eulina. Síndrome CINCA: um diagnóstico diferencial da artrite idiopática juvenil. Rev. Bras. Reumatol. [online]. 2007, vol.47, n.4 [cited 2010-09-18], pp. 309-314. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0482-50042007000400013 (CAPS Article in Spanish)

Prieur, A.M.CINCA. http://www.orpha.net/data/patho/Pro/en/CINCA-FRenPro3395.pdf

Rosengren S, et al. Monocytes from FCAS patients Are Activated by Mild Hypothermia. J. Allergy Clin. Immunol. Allergy. 2007; 119(4): 991-996. http://www.jacionline.org/article/S0091-6749(06)03916-9/fulltext

Saito, M., Fujisawa, A., et al. (2005), Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis & Rheumatism, 52: 3579–3585. doi: 10.1002/art.21404. http://onlinelibrary.wiley.com/doi/10.1002/art.21404/abstract

Journal Supplement
This is an excellent supplement to the New England Journal of Medicine Article. The diagrams of how Kineret (an Interleukin-1 receptor antagonist drug) works in NOMID patients are very impressive.

NOMID Journal Article
This article on the NIH NOMID protocol with Kineret was published in the New England Journal of Medicine this year, on August 10, 2006.