| H00106 | |
| H番号 | H00106 |
| 名称 | 補体制御タンパクの障害 |
| 概要 | To prevent undesirable complement activation, host tissues express a number of complement regulatory proteins (CRPs). They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP), Factor I, decay accelerating factor (DAF), CD59, and so on. C1-INH (SERPING1) deficiency can be genetic or acquired, and this causes an episodic, local increase in vascular permeability in the subcutaneous and submucosal layers, identified as angioedema (hereditary or acquired). Genetic deficiency of C4BP has only been reported in one individual who developed an illness with similarities to Behcet's syndrome. Heterozygous mutations within the Factor I gene have been recently identified in individuals with atypical hemolytic uremic syndrome (aHUS), while homozygous deficiency of Factor I is an unusual feature. Factor I-deficient patients present high susceptibility to respiratory tract infections and meningitis. Kidney impairment and autoimmune disorders have also been observed. Only a single case of CD59 deficiency has been reported and this individual developed a paroxysmal nocturnal haemoglobinuria(PNH)-like illness. In contrast, deficiency of DAF is not associated with haemolytic anaemia. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | nt06513 Complement cascade nt06514(H00106) Coagulation cascade |
| 病因遺伝子 | SERPING1 [HSA:710] [KO:K04001] C4BPA [HSA:722] [KO:K04002] C4BPB [HSA:725] [KO:K04003] CFI [HSA:3426] [KO:K01333] CD55 [HSA:1604] [KO:K04006] CD59 [HSA:966] [KO:K04008] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.1Y OMIM: 106100 610984 612300 |
| 文献 | PMID:19481265 著者 Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F タイトル Complement in human diseases: Lessons from complement deficiencies. 雑誌 Mol Immunol 46:2774-83 (2009) DOI:10.1016/j.molimm.2009.04.029 PMID:19162547 著者 Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M タイトル C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. 雑誌 Trends Mol Med 15:69-78 (2009) DOI:10.1016/j.molmed.2008.12.001 PMID:18374984 著者 Ponce-Castro IM, Gonzalez-Rubio C, Delgado-Cervino EM, Abarrategui-Garrido C, Fontan G, Sanchez-Corral P, Lopez-Trascasa M タイトル Molecular characterization of Complement Factor I deficiency in two Spanish families. 雑誌 Mol Immunol 45:2764-71 (2008) DOI:10.1016/j.molimm.2008.02.008 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 |