Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1 [8]

Arthritis and Rheumatism

Volumn 50, Issue 8, 2004, Pages 2719-2720

  Frenkel, Joost ^a   Van Kempen, Marjan J A ^a   Kuis, Wietse ^a   Van Amstel, Hans Kristian Ploos ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIINFLAMMATORY AGENT; CASPASE RECRUITMENT DOMAIN PROTEIN 15; COLCHICINE; MESALAZINE; PREDNISONE;

ADOLESCENT; ARTHROPATHY; CASE REPORT; CHILD GROWTH; CIAS1 GENE; CINCA SYNDROME; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; EXON; GENE; GENE AMPLIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFLAMMATORY DISEASE; LABORATORY TEST; LETTER; LEUCINE RICH REPEAT DOMAIN; MALE; NEUROLOGIC DISEASE; ONSET AGE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN DISEASE; SYNDROME CINCA;

ADOLESCENT; CARRIER PROTEINS; HUMANS; MALE; MUTATION; NERVOUS SYSTEM DISEASES; SKIN DISEASES; SYNDROME; VASCULAR DISEASES;

EID: 4043060827     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.20295     Document Type: Letter

References (10)

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2. Dollfus H, Hafner R, Hofmann HM, Russo RA, Denda L, Gonzales LD, et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol 2000;118:1386-92.
3. Feldmann J, Prieur AM, Quartier P, Berquin P, Cortis E, Teillac-Hamel D, 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.
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