Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients

被引：21

作者：

Ohnishi, Hidenori ^{[1
]}

Teramoto, Takahide ^{[1
]}

Iwata, Hiroaki ^{[2
]}

Kato, Zenichiro ^{[1
]}

Kimura, Takeshi ^{[1
]}

Kubota, Kazuo ^{[1
]}

Nishikomori, Ryuta ^{[3
]}

Kaneko, Hideo ^{[1
,4
]}

Seishima, Mariko ^{[2
]}

Kondo, Naomi ^{[1
]}

机构：

[1] Gifu Univ, Dept Pediat, Grad Sch Med, Gifu 5011194, Japan

[2] Gifu Univ, Dept Dermatol, Grad Sch Med, Gifu 5011194, Japan

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

[4] Nagara Med Ctr, Dept Clin Res, Gifu, Japan

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2012年 / 32卷 / 02期

关键词：

Autoinflammatory disease; cryopyrin; familial cold autoinflammatory syndrome; interleukin-18; NLRP3; COLD AUTOINFLAMMATORY SYNDROME; ARTICULAR SYNDROME; DISEASE-ACTIVITY; RHEUMATOID-ARTHRITIS; SOMATIC MOSAICISM; CIAS1; MUTATIONS; CINCA SYNDROME; GENE; INTERLEUKIN-18; ACTIVATION;

D O I：

10.1007/s10875-011-9629-0

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

The etiology of cryopyrin-associated periodic syndrome (CAPS) is caused by germline gene mutations in NOD-like receptor family, pryin domain containing 3 (NLRP3)/cold-induced autoinflammatory syndrome 1 (CIAS1). CAPS includes diseases with various severities. The aim of this study was to characterize patients according to the disease severity of CAPS. Five Japanese patients with four kinds of gene variations in NLRP3 were found and diagnosed as CAPS or juvenile idiopathic arthritis. Two mutations in NLRP3, Y563N and E688K, found in CAPS patients exhibit significant positive activities in the nuclear factor-kappa B reporter gene assay. Increased serum interleukin (IL)-18 levels were only observed in severe cases of CAPS. In mild cases of CAPS, the serum IL-18 levels were not increased, although lipopolysaccharide-or hypothermia-enhanced IL-1 beta and IL-18 production levels by their peripheral blood mononuclear cells were detectable. This series of case reports suggests that a combination of in vitro assays could be a useful tool for the diagnosis and characterization of the disease severity of CAPS.

引用

页码：221 / 229

页数：9

共 24 条

[1]

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

[2]

Arai Takahiro, 2008, Allergol Int, V57, P331, DOI 10.2332/allergolint.O-08-532

[3]

Clinical and genetic characterization of Italian patients affected by CINCA syndrome [J].

Caroli, F. ;

Pontillo, A. ;

D'Osualdo, A. ;

Travan, L. ;

Ceccherini, I. ;

Crovella, S. ;

Alessio, M. ;

Stabile, A. ;

Gattorno, M. ;

Tommasini, A. ;

Martini, A. ;

Lepore, L. .

RHEUMATOLOGY, 2007, 46 (03) :473-478

[4]

Church LD, 2008, BIOL-TARGETS THER, V2, P733

[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]

Recurrent febrile syndromes-what a rheumatologist needs to know [J].

Hoffman, Hal M. ;

Simon, Anna .

NATURE REVIEWS RHEUMATOLOGY, 2009, 5 (05) :249-256

[7]

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

[8]

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

[9]

Enhanced interleukin-1β and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome [J].

Janssen, R ;

Verhard, E ;

Lankester, A ;

ten Cate, R ;

van Dissel, JT .

ARTHRITIS AND RHEUMATISM, 2004, 50 (10) :3329-3333

[10]

Mutations in NALP12 cause hereditary periodic fever syndromes [J].

Jeru, I. ;

Duquesnoy, P. ;

Fernandes-Alnemri, T. ;

Cochet, E. ;

Yu, J. W. ;

Lackmy-Port-Lis, M. ;

Grimprel, E. ;

Landman-Parker, J. ;

Hentgen, V. ;

Marlin, S. ;

McElreavey, K. ;

Sarkisian, T. ;

Grateau, G. ;

Alnemri, E. S. ;

Amselem, S. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (05) :1614-1619

← 1 2 3 →