文献詳細
文献概要
今月の主題 免疫不全症候群と遺伝子異常 各疾患の遺伝子異常,診断と治療
自己炎症性疾患
著者: 西小森隆太1
所属機関: 1京都大学大学院医学研究科発達小児科学
ページ範囲:P.605 - P.610
文献購入ページに移動 自己炎症性疾患は臨床的には周期熱を特徴とする遺伝性疾患群の総称であり,主として自然免疫系に関与する遺伝子の異常で発症する.本総説では代表的な疾患である家族性地中海熱,TRAPS,高IgD症候群,CAPS,若年性サルコイドーシス/Blau症候群について,日本における実情を織り交ぜながら,診断,検査特に遺伝子検査について記載した.
参考文献
1) Kastner D, Brydges S, Hull K:Periodic Fever Syndromes. In:Primary immunodeficiency Diseases(Ochs HD, ed), Oxford University Press Inc, New York, pp367-389, 2007
2) Livneh A, Langevitz P, Zemer D, et al:Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879-1885, 1997
3) 斎藤潤,西小森隆太,神戸直智:MEFV遺伝子異常と治療法の実際.日本臨床免疫学会会誌 30:78-85,2007
4) McDermott MF, Aksentijevich I, Galon J, et al:Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97:133-144, 1999
5) Lobito AA, Kimberley FC, Muppidi JR, et al:Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome(TRAPS). Blood 108:1320-1327, 2006
6) 井田弘明,江口勝美:TRAPSの診断と新しい治療法の展開.日本臨床免疫学会誌 30:90-100,2007
7) van der Hilst JC, Bodar EJ, Barron KS, et al:Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine(Baltimore) 87:301-310, 2008
8) Naruto T, Nakagishi Y, Mori M, et al:Hyper-IgD syndrome with novel mutation in a Japanese girl. Mod Rheumatol 19:96-99, 2009
9) Agostini L, Martinon F, Burns K, et al:NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20:319-325, 2004
10) Saito M, Nishikomori R, Kambe N, et al:Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood 111:2132-2141, 2008
11) Kanazawa N, Okafuji I, Kambe N, et al:Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation:common genetic etiology with Blau syndrome. Blood 105:1195-1197, 2005
12) Okafuji I, Nishikomori R, Kanazawa N, et al:Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum 60:242-250, 2009
13) Brydges S, Athreya B, Kastner DL:Periodic Fever Syndrome in Children. Textbook of Pediatric Rheumatology, 5th edition(Cassidy JT, Petty RE, eds)WB Saunders Co, philadelphia, pp657-675, 2005
14) Chamaillard M, Philpott D, Girardin SE, et al:Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci USA 100:3455-3460, 2003
掲載誌情報