Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease

Arthritis and Rheumatism

Volumn 50, Issue 8, 2004, Pages 2708-2709

  Hawkins, Philip N ^a   Bybee, Alison ^a   Aganna, Ebun ^b   McDermott, Michael F ^b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

ACUTE PHASE RESPONSE; ADULT; ARTHROPATHY; ARTICLE; CASE REPORT; CIAS1 GENE; CINCA SYNDROME; CLINICAL FEATURE; CORTICOSTEROID THERAPY; DISEASE ACTIVITY; DRUG MEGADOSE; DRUG RESPONSE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INFLAMMATORY DISEASE; MULTIGENE FAMILY; NALP3 GENE; NEUROLOGIC DISEASE; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING; SEXUAL DEVELOPMENT; SKIN DISEASE; SYNDROME CINCA; TREATMENT OUTCOME;

ADULT; ARTHRITIS; FEMALE; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; SIALOGLYCOPROTEINS; SYNDROME;

EID: 4043104941     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.20357     Document Type: Article

References (7)

1. 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;71:198-203.
2. Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, et al. New mutations of CIASI that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002;70:1498-506.
3. 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.
4. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301-5.
5. Hawkins PN, Lachmann HJ, McDermott MF. Efficacy of interleukin-1 receptor antagonist in Muckle-Wells syndrome. N Engl J Med 2003;348:2583-4.
6. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607-12.
7. Tschopp J, Martinon F, Burns K. NALPs: a novel protein family involved in inflammation. Nat Rev Mol Cell Biol 2003;4:95-104.