Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): Description of a rare non-exon 3 and a novel CIAS1 missense mutation

Journal of Clinical Immunology

Volumn 28, Issue 2, 2008, Pages 134-138

  Jesus, Adriana A ^a   Silva, Clovis A ^a   Segundo, Gesmar R ^b   Aksentijevich, Ivona ^c   Fujihira, Erika ^a   Watanabe, Mônica ^a   Carneiro Sampaio, Magda ^a   Duarte, Alberto J S ^d   Oliveira, João B ^a,d  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF UBERLÂNDIA   (Brazil)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^d Hospital do Coracao   (Brazil)

Author keywords

CIAS1; CINCA; Cryopyrin; NOMID; Periodic fever

Indexed keywords

COLCHICINE; COTRIMOXAZOLE; NONSTEROID ANTIINFLAMMATORY AGENT; PREDNISOLONE;

ARTICLE; CASE REPORT; CINCA SYNDROME; CLINICAL FEATURE; CRYOPYRIN ASSOCIATED PERIODIC SYNDROME; DISEASE ASSOCIATION; EXON; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FEMALE; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; LABORATORY TEST; LYMPH NODE BIOPSY; MALE; MISSENSE MUTATION; NEWBORN; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SKIN BIOPSY; TREATMENT OUTCOME;

CARRIER PROTEINS; CHILD; EXONS; FACIES; FEMALE; GENETIC DISEASES, INBORN; GENOTYPE; HUMANS; INFANT, NEWBORN; INFLAMMATION; MALE; MUTATION, MISSENSE; PHENOTYPE; SYNDROME;

EID: 40149105568     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-007-9150-7     Document Type: Article

References (13)

1. Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005;17:586-99.
2. Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003;15:61-9.
3. Masters SL, Lobito AA, Chae J, Kastner DL. Recent advances in the molecular pathogenesis of hereditary recurrent fevers. Curr Opin Allergy Clin Immunol 2006;6:428-33.
4. Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56:1273-85.
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;46:3340-8.
6. Ting JP, Kastner DL, Hoffman HM. CATERPILLERs, pyrin and hereditary immunological disorders. Nat Rev Immunol 2006;6:183-95.
7. Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004;103:2809-15.
8. Matsubayashi T, Sugiura H, Arai T, Oh-Ishi T, Inamo Y. Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr 2006;95:246-9.
9. Martinon F, Tschopp J. Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases. Cell 2004;117:561-74.
10. Simon A, van der Meer JW. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol 2007;292:R86-R98.
11. Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004;364:1779-85.
12. Rynne M, Maclean C, Bybee A, McDermott MF, Emery P. Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann Rheum Dis 2006;65:533-4.
13. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 2006;355:581-92.