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REFERENCES

  • 1
    Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009; 27: 62168.
  • 2
    Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 58699.
  • 3
    Touitou I, Kone-Paut I. Autoinflammatory diseases. Best Pract Res Clin Rheumatol 2008; 22: 81129.
  • 4
    Jesus AA, Silva CA, Segundo GR, Aksentijevich I, Fujihira E, Watanabe M, et al. Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J Clin Immunol 2008; 28: 1348.
  • 5
    Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002; 46: 33408.
  • 6
    Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002; 71: 198203.
  • 7
    Prieur AM. A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 2001; 19: 1036.
  • 8
    Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 2005; 42: 5517.
  • 9
    Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia: report of a new family and a review. Eur J Pediatr 2001; 160: 70510.
  • 10
    Majeed HA, El-Shanti H, Al-Rimawi H, Al-Masri N. On mice and men: an autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Pediatr 2000; 137: 4412.
  • 11
    Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, Al-Gharbawy F, et al. Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 1989; 115: 7304.
  • 12
    Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 2009; 360: 242637.
  • 13
    Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 2009; 360: 243844.
  • 14
    Ergin S, Ersoy-Evans S, Sahin S, Ozkaya O. Acitretin is a safe treatment option for infantile pustular psoriasis. J Dermatolog Treat 2008; 19: 3413.
  • 15
    Schreuder H, Tardif C, Trump-Kallmeyer S, Soffientini A, Sarubbi E, Akeson A, et al. A new cytokine-receptor binding mode revealed by the crystal structure of the IL-1 receptor with an antagonist. Nature 1997; 386: 194200.
  • 16
    Glaser RL, Goldbach-Mansky R. The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies. Curr Allergy Asthma Rep 2008; 8: 28898.
  • 17
    Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med 2006; 355: 58192.
  • 18
    Simon A, Bijzet J, Voorbij HA, Mantovani A, van der Meer JW, Drenth JP. Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. J Intern Med 2004; 256: 24753.
  • 19
    Simon A, Cuisset L, Vincent MF, van der Velde-Visser SD, Delpech M, van der Meer JW, et al, for the International HIDS Study Group. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med 2001; 135: 33843.
  • 20
    Simon A, Kremer HP, Wevers RA, Scheffer H, de Jong JG, van der Meer JW, et al. Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology 2004; 62: 9947.