| H00102 | |
| H番号 | H00102 |
| 名称 | 古典的補体経路の構成要素の障害 |
| 概要 | Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways of the complement response. Defects in the classic pathway (CP) account for the more common type of complement deficiency, and are associated with increased risk to develop systemic lupus erythematosus (SLE) and SLE-like diseases. Homozygous C2 deficiency, which is the most frequent hereditary deficiency in complement classical pathway components, is associated with SLE in 10% of the cases. Complete C1q and C4 deficiencies are less frequent but associated with a higher prevalence of SLE. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | nt06513 Complement cascade |
| 病因遺伝子 | C1QA [HSA:712] [KO:K03986] C1QB [HSA:713] [KO:K03987] C1QG [HSA:714] [KO:K03988] C1R [HSA:715] [KO:K01330] C1S [HSA:716] [KO:K01331] C2 [HSA:717] [KO:K01332] C3 [HSA:718] [KO:K03990] C4A [HSA:720] [KO:K03989] C4B [HSA:721] [KO:K03989] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.10 OMIM: 613652 613783 217000 613779 614380 614379 120790 |
| 文献 | PMID:19028607 著者 Bussone G, Mouthon L タイトル Autoimmune manifestations in primary immune deficiencies. 雑誌 Autoimmun Rev 8:332-6 (2009) DOI:10.1016/j.autrev.2008.11.004 PMID:17162365 著者 Kumar A, Teuber SS, Gershwin ME. タイトル Current perspectives on primary immunodeficiency diseases. 雑誌 Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 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 |