Mutation negative familial cold autoinXammatory syndrome (FCAS) in an 8-year-old boy: Clinical course and functional studies

Rheumatology International

Volumn 32, Issue 9, 2012, Pages 2629-2636

  Hedrich, C M ^a   Bruck, N ^a   Paul, D ^a   Gahr, M ^a   Rosen Wolv A ^a   Hahn, G ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Anakinra; Cryopyrin; Cytokines; FCAS; Fever; InXammation

Indexed keywords

CRYOPYRIN; INTERLEUKIN 1BETA; INTERLEUKIN 6; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SERUM AMYLOID A; TUMOR NECROSIS FACTOR ALPHA;

ARTHRALGIA; ARTHRITIS; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CYTOKINE PRODUCTION; CYTOKINE RELEASE; DRUG EFFECT; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FATIGUE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPOTHERMIA; MALE; MONOCYTE; MUCKLE WELLS SYNDROME; MYOSITIS; PHYSICAL ACTIVITY; PRIORITY JOURNAL; RASH; REMISSION; SCHOOL CHILD; SEASONAL VARIATION; TREATMENT RESPONSE;

ANTIRHEUMATIC AGENTS; CARRIER PROTEINS; CASPASE 1; CHILD; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; CYTOKINES; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MALE; MONOCYTES; MUTATION; TREATMENT OUTCOME;

EID: 84866426987     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-011-2019-3     Document Type: Article

References (22)

1. Masters SL, Simon A, Aksentijevich I, Kastner DL (2009) Horror autoinXammaticus: the molecular pathophysiology of autoinXammatory disease. Annu Rev Immunol 27:621-668
2. Ryan JG, Kastner DL (2008) Fevers, genes, and innate immunity. Curr Top Microbiol Immunol 321:169-184
3. Kastner DL (2005) Hereditary periodic fever syndromes. Hematology Am Soc Hematol Educ Program 74-81
4. Hedrich CM, Fiebig B, Sallmann S et al (2008) Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine proWles and functional studies. Scand J Rheumatol 37(5):385-389
5. Goldbach-Mansky R (2009) Blocking interleukin-1 in rheumatic diseases. Ann NY Acad Sci 1182:111-123
6. Goldbach-Mansky R, Dailey NJ, Canna SW et al (2006) Neonatalonset multisystem inXammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 355(6):581-592 (Pubitemid 44200651)
7. Savic S, McDermott MF (2009) InXammation: canakinumab for the cryopyrin-associated periodic syndromes. Nat Rev Rheumatol 5(10):529-530
8. McDermott MF (2009) Rilonacept in the treatment of chronic inXammatory disorders. Drugs Today (Barc) 45(6):423-430
9. Aróstegui JI, Lopez Saldaña MD, Pascal M et al (2010) A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inXammatory disease: Novel evidence of the role of lowlevel mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. Arthritis Rheum 62(4):1158-1166
10. Saito M, Nishikomori R, Kambe N et al (2008). Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood 111(4):2132-2141 (Pubitemid 351451525)
11. Agostini L, Martinon F, Burns K et al (2004) NALP3 forms an IL-1-processing inXammasome with increased activity in Muckle-Wells autoinXammatory disorder. Immunity 20:319-325 (Pubitemid 38388233)
12. Hawkins PN, Lachmann HJ, Aganna E (2004) McDermott MF Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 50:607-612 (Pubitemid 38198844)
13. Kümmerle-Deschner JB, Tyrrell PN, Reess F et al (2010) Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum 62(12):3783-3791. doi:10.1002/art.27696
14. Wang X, Wang H, Figueroa BE et al (2005) Dysregulation of receptor interacting protein-2 and Caspase recruitment domain only protein mediates aberrant Caspase-1 activation in Huntington's disease. J Neurosci 25(50):11645-11654 (Pubitemid 43098457)
15. Sarkar A, Duncan M, Hart J et al (2006) ASC directs NF-kappaB activation by regulating receptor interacting protein-2 (RIP2) caspase-1 interactions. J Immunol 176(8):4979-4986
16. Aksentijevich I, Masters SL, Ferguson PJ et al (2009) An autoin-Xammatory disease with deWciency of the interleukin-1-receptor antagonist. N Engl J Med 360(23):2426-2437
17. Mavragani CP, Yiannakouris N, Zintzaras E et al (2007) Analysis of SAA1 gene polymorphisms in the Greek population: rheumatoid arthritis and FMF patients relative to normal controls. Homogeneous distribution and low incidence of AA amyloidosis. Amyloid 14(4):271-275 (Pubitemid 350035573)
18. van der Hilst JC, Simon A, Drenth JP (2005) Hereditary periodic fever and reactive amyloidosis. Clin Exp Med 5(3):87-98 (Pubitemid 41597267)
19. Möller JC, Paul D, Ganser G, Range U, Gahr M, Kelsch R, Rösen-WolV A, Hedrich CM (2010) Clin IL10 promoter polymorphisms are associated with systemic onset juvenile idiopathic arthritis (So-JIA). Clin Exp Rheumatol 28(6):912-918
20. Rosengren S, Mueller JL, Anderson JP et al (2007) Monocytes from familial cold autoinXammatory syndrome patients are activated by mild hypothermia. J Allergy Clin Immunol 119(4):991-996 (Pubitemid 46527817)
21. Gattorno M, Tassi S, Carta S et al (2007) Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 56(9):3138-3148 (Pubitemid 47502762)
22. Bell E (2008) Innate immunity: TLR4 signalling. Nat Rev Immunol 3:692