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

被引：35

作者：

Frenkel, J ^{[1
]}

van Kempen, MJA ^{[1
]}

Kuis, W ^{[1
]}

van Amstel, HKP ^{[1
]}

机构：

[1] Univ Utrecht, Med Ctr, Utrecht, Netherlands

来源：

ARTHRITIS AND RHEUMATISM | 2004年 / 50卷 / 08期

关键词：

D O I：

10.1002/art.20295

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：2719 / 2720

页数：2

共 10 条

[1] Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis [J].

Aganna, E ;

Martinon, F ;

Hawkins, PN ;

Ross, JB ;

Swan, DC ;

Booth, DR ;

Lachmann, HJ ;

Gaudet, R ;

Woo, P ;

Feighery, C ;

Cotter, FE ;

Thome, M ;

Hitman, GA ;

Tschopp, J ;

McDermott, MF .

ARTHRITIS AND RHEUMATISM, 2002, 46 (09) :2445-2452

[2] 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 [J].

Aksentijevich, I ;

Nowak, M ;

Mallah, M ;

Chae, JJ ;

Watford, WT ;

Hofmann, SR ;

Stein, L ;

Russo, R ;

Goldsmith, D ;

Dent, P ;

Rosenberg, HF ;

Austin, F ;

Remmers, EF ;

Balow, JE ;

Rosenzweig, S ;

Komarow, H ;

Shoham, NG ;

Wood, G ;

Jones, J ;

Mangra, N ;

Carrero, H ;

Adams, BS ;

Moore, TL ;

Schikler, K ;

Hoffman, H ;

Lovell, DJ ;

Lipnick, R ;

Barron, K ;

O'Shea, JJ ;

Kastner, DL ;

Goldbach-Mansky, R .

ARTHRITIS AND RHEUMATISM, 2002, 46 (12) :3340-3348

[3] New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria:: A novel mutation underlies both syndromes [J].

Dodé, C ;

Le Dû, N ;

Cuisset, L ;

Letourneur, F ;

Berthelot, JM ;

Vaudour, G ;

Meyrier, A ;

Watts, RA ;

Scott, DGI ;

Nicholls, A ;

Granel, B ;

Frances, C ;

Garcier, F ;

Edery, P ;

Boulinguez, S ;

Domergues, JP ;

Delpech, M ;

Grateau, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) :1498-1506

[4]

Dollfus H, 2000, ARCH OPHTHALMOL-CHIC, V118, P1386

[5] Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes [J].

Feldmann, J ;

Prieur, AM ;

Quartier, P ;

Berquin, P ;

Certain, S ;

Cortis, E ;

Teillac-Hamel, D ;

Fischer, A ;

de Saint Basile, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (01) :198-203

[6] Fine structure mapping of CIAS1:: identification of an ancestral haplotype and a common FCAS mutation, L353P [J].

Hoffman, HM ;

Gregory, SG ;

Mueller, JL ;

Tresierras, M ;

Broide, DH ;

Wanderer, AA ;

Kolodner, RD .

HUMAN GENETICS, 2003, 112 (02) :209-216

[7] Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome [J].

Hoffman, HM ;

Mueller, JL ;

Broide, DH ;

Wanderer, AA ;

Kolodner, RD .

NATURE GENETICS, 2001, 29 (03) :301-305

[8] CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease [J].

Lesage, S ;

Zouali, H ;

Cézard, JP ;

Colombel, JF ;

Belaiche, J ;

Almer, S ;

Tysk, C ;

O'Morain, C ;

Gassull, M ;

Binder, V ;

Finkel, Y ;

Modigliani, R ;

Gower-Rousseau, C ;

Macry, J ;

Merlin, F ;

Chamaillard, M ;

Jannot, AS ;

Thomas, G ;

Hugot, JP .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (04) :845-857

[9] CARD15 mutations in Blau syndrome [J].

Miceli-Richard, C ;

Lesage, S ;

Rybojad, M ;

Prieur, AM ;

Manouvrier-Hanu, S ;

Häfner, R ;

Chamaillard, M ;

Zouali, H ;

Thomas, G ;

Hugot, JP .

NATURE GENETICS, 2001, 29 (01) :19-20

[10]

Prieur AM, 2001, CLIN EXP RHEUMATOL, V19, P103

← 1 →