Cryopyrin-associated Periodic Syndrome: A Case Report and Review of the Japanese Literature

被引：12

作者：

Aoyama, Kumi ^{[1
]}

Amano, Hiroo ^{[1
]}

Takaoka, Yuki ^{[2
]}

Nishikomori, Ryuta ^{[2
]}

Ishikawa, Osamu ^{[1
]}

机构：

[1] Gunma Univ, Grad Sch Med, Dept Dermatol, Maebashi, Gunma 3718511, Japan

[2] Kyoto Univ, Grad Sch Med, Dept Pediat, Kyoto, Japan

来源：

ACTA DERMATO-VENEREOLOGICA | 2012年 / 92卷 / 04期

关键词：

cryopyrin-associated periodic syndrome; urticaria-like rash; NLRP3; COLD AUTOINFLAMMATORY SYNDROME; ARTICULAR SYNDROME; INFLAMMATORY CASPASES; INFANTILE; INFLAMMASOMES; ACTIVATION; MUTATIONS; PATIENT; PROTEIN; DISEASE;

D O I：

10.2340/00015555-1322

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Cryopyrin-associated periodic syndrome is an autoinflammatory syndrome caused by mutations of the CIAS1 gene (currently named NLRP3), and is characterized by periodic attacks of an urticaria-like rash, fever, headache, conjunctivitis and arthralgia. We report here a case of a 1-year-old boy with cryopyrin-associated periodic syndrome, which manifested as a recurrent skin rash in the postnatal period. Genetic analysis revealed a missense mutation of the CIAS1 gene in the mother and infant.

引用

页码：395 / 398

页数：4

共 29 条

[1] NALP3 forms an IL-lβ-Processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder [J].

Agostini, L ;

Martinon, F ;

Burns, K ;

McDermott, MF ;

Hawkins, PN ;

Tschopp, J .

IMMUNITY, 2004, 20 (03) :319-325

[2] Primer:: inflammasomes and interleukin 1β in inflammatory disorders [J].

Church, Leigh D. ;

Cook, Graham P. ;

McDermott, Michael F. .

NATURE CLINICAL PRACTICE RHEUMATOLOGY, 2008, 4 (01) :34-42

[3] Autoinflammatory diseases - Clinical and genetic advances [J].

Farasat, Sharifeh ;

Aksentijevich, Ivona ;

Toro, Jorge R. .

ARCHIVES OF DERMATOLOGY, 2008, 144 (03) :392-402

[4] 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

[5]

Fujisawa A, 2007, JPN J DERMATOL, V117, P1445

[6] TNFRSF1A mutations and autoinflammatory syndromes [J].

Galon, J ;

Aksentijevich, I ;

McDermott, MF ;

O'Shea, JJ ;

Kastner, DL .

CURRENT OPINION IN IMMUNOLOGY, 2000, 12 (04) :479-486

[7]

Gotoh M, 2006, JAP J CLIN OPHTHALMO, V100, P327

[8] Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever [J].

Hoffman, HM ;

Wanderer, AA ;

Broide, DH .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2001, 108 (04) :615-620

[9] 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

[10]

INAMO Y, 1994, CLIN EXP RHEUMATOL, V12, P447

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