Description of a new family with cryopyrin-associated periodic syndrome: Risk of visual loss in patients bearing the R260W mutation

Rheumatology (United Kingdom)

Volumn 53, Issue 6, 2014, Pages 1095-1099

  Alejandre, Nicolás ^a   Ruiz Palacios, Ana ^a   García Aparicio, Angel M ^b   Blanco Kelly, Fiona ^a,c   Bermúdez, Sandra ^a   Fernández Sanz, Guillermo ^a,d   Romero, Fredeswinda I ^a   Aróstegui, Juan I ^e   Ayuso, Carmen ^a,c   Jiménez Alfaro, Ignacio ^a   Herrero Beaumont, Gabriel ^a   Sánchez Pernaute, Olga ^a  

^a HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^b HOSPITAL VIRGEN DE LA SALUD   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e HOSPITAL CLÍNIC   (Spain)

Author keywords

Cryopyrin associated periodic syndrome; IL 1 blockage; Interstitial keratitis

Indexed keywords

CRYOPYRIN; GENOMIC DNA; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

ADULT; ARTHRALGIA; ARTICLE; CINCA SYNDROME; CLINICAL EXAMINATION; COLD EXPOSURE; DNA EXTRACTION; EYE EXAMINATION; FEMALE; FEVER; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; IRIDOCYCLITIS; MIDDLE AGED; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOSCOPY; OUTCOME ASSESSMENT; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RASH; SLIT LAMP; VISUAL IMPAIRMENT; YOUNG ADULT;

ANTIRHEUMATIC AGENTS; CARRIER PROTEINS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; FEMALE; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; KERATITIS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; TREATMENT OUTCOME; UVEITIS, ANTERIOR; VISION DISORDERS; YOUNG ADULT;

EID: 84900792585     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/ket486     Document Type: Article

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