Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation

Clinical Immunology

Volumn 148, Issue 2, 2013, Pages 299-300

  Canoui E ^a,b   Maigne G ^a,b   Jeru I ^c   Amselem, S ^c   Kone Paut I ^a,b   Lambotte, O ^a  

^a BICÊTRE HOSPITAL   (France)

^b Kremlin Bicêtre University Hospital   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Autoinflammatory disease; CAPS; Urticaria

Indexed keywords

C REACTIVE PROTEIN; CANAKINUMAB; CRYOPYRIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

ADULT; ARTHRALGIA; CASE REPORT; CAUCASIAN; CHRONIC URTICARIA; CINCA SYNDROME; CLINICAL FEATURE; DNA EXTRACTION; DNA POLYMORPHISM; DRUG SUBSTITUTION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INNATE IMMUNITY; LETTER; NEUTROPHILIA; PRIORITY JOURNAL; SYMPTOM;

AUTOINFLAMMATORY DISEASE; CAPS; URTICARIA;

CARRIER PROTEINS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; FEMALE; HETEROZYGOTE; HUMANS; MUTATION; POLYMORPHISM, GENETIC; SERUM AMYLOID A PROTEIN; YOUNG ADULT;

EID: 84879737802     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2013.05.020     Document Type: Letter

References (3)

1. Aksentijevich Ivona, et al. The clinical continuum of cryopyrinopathies. Arthritis Rheum. 2007, 56:1273-1285.
2. Touitou Isabelle, Touitou Isabelle, et al. Autoinflammatory diseases. Best Pract. Res. Clin. Rheumatol. 2008, 22:811-829.
3. Cuisset L., et al. Mutations in the autoinflammatory cryopyrin associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann. Rheum. Dis. 2011, 70:495-499.