| H00108 | |
| H番号 | H00108 |
| 名称 | 自己免疫性リンパ増殖症候群 |
| 概要 | Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphadenopathy and/or splenomegaly, and expansion of double-negative (DN) T cells in the peripheral blood. Central to the cellular pathogenesis is defective FAS-induced apoptosis, which in turn leads to dysregulation of lymphocyte homeostasis. ALPS caused by heterozygous mutations in the Fas gene (ALPS Type Ia) make up the majority of identified cases. However, other mutations, namely of the FasL gene (ALPS Type Ib) and the caspase 8 and 10 genes (ALPS Type II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III). Recently, mutations of the NRAS gene have been suggested to cause ALPS Type IV. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | nt06524(H00108) Apoptosis nt06527(H00108) Necroptosis |
| 病因遺伝子 | (ALPS1A) FAS [HSA:355] [KO:K04390] (ALPS1B) FASLG [HSA:356] [KO:K04389] (ALPS2A) CASP10 [HSA:843] [KO:K04400] (ALPS2B) CASP8 [HSA:841] [KO:K04398] (ALPS3) PRKCD [HSA:5580] [KO:K06068] (ALPS4) NRAS [HSA:4893] [KO:K07828] (ALPS5) CTLA4 [HSA:1493] [KO:K06538] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.22 ICD-10: D47.9 MeSH: D056735 OMIM: 601859 603909 614470 615559 607271 616100 |
| 文献 | PMID:16611303 著者 Worth A, Thrasher AJ, Gaspar HB タイトル Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. 雑誌 Br J Haematol 133:124-40 (2006) DOI:10.1111/j.1365-2141.2006.05993.x PMID:17952897 著者 Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J. タイトル Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. 雑誌 J Allergy Clin Immunol 120:776-94 (2007) DOI:10.1016/j.jaci.2007.08.053 PMID:17999750 (ALPS1_2) 著者 Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U タイトル Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 雑誌 BMC Immunol 8:28 (2007) DOI:10.1186/1471-2172-8-28 PMID:23666743 (ALPS3) 著者 Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, Szynkiewicz M, Zabot MT, Rouvet I, Bhaskar SS, Daly SB, Dickerson JE, Mayer J, O'Sullivan J, Juillard L, Urquhart JE, Fawdar S, Marusiak AA, Stephenson N, Waszkowycz B, W Beresford M, Biesecker LG, C M Black G, Rene C, Eliaou JF, Fabien N, Ranchin B, Cochat P, Gaffney PM, Rozenberg F, Lebon P, Malcus C, Crow YJ, Brognard J, Bonnefoy N タイトル Protein kinase cdelta deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. 雑誌 Arthritis Rheum 65:2161-71 (2013) DOI:10.1002/art.38008 PMID:17517660 (ALPS4) 著者 Oliveira JB, Bidere N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ タイトル NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 雑誌 Proc Natl Acad Sci U S A 104:8953-8 (2007) DOI:10.1073/pnas.0702975104 PMID:25213377 (ALPS5) 著者 Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G タイトル Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. 雑誌 Science 345:1623-1627 (2014) DOI:10.1126/science.1255904 |