| H00105 | |
| H番号 | H00105 |
| 名称 | マンノース結合レクチン経路の構成要素の障害; 補体レクチン経路の障害 (LCAPD) |
| 概要 | There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune disorders. MBL deficiency is one of the most common human immunodeficiencies and arises primarily from three single point mutations in exon 1 of the MBL-2 gene. These mutations result in a failure to assemble fully functional multimeric protein. Inherited MASP-2 deficiency has been described as the result of a mutation causing the exchange of aspartic acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium binding. This mutation abolishes the binding to MBL and ficolins, and deprives MASP-2 of functional activity. |
| 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 | (LCAPD1) MBL2 [HSA:4153] [KO:K03991] (LCAPD2) MASP2 [HSA:10747] [KO:K03993] (LCAPD3) FCN3 [HSA:8547] [KO:K10104] |
| 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: 614372 613791 613860 |
| 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:14568388 著者 Turner MW タイトル The role of mannose-binding lectin in health and disease. 雑誌 Mol Immunol 40:423-9 (2003) DOI:10.1016/S0161-5890(03)00155-X PMID:16189649 著者 Sorensen R, Thiel S, Jensenius JC タイトル Mannan-binding-lectin-associated serine proteases, characteristics and disease associations. 雑誌 Springer Semin Immunopathol 27:299-319 (2005) DOI:10.1007/s00281-005-0006-z 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 PMID:19535802 著者 Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P タイトル Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. 雑誌 N Engl J Med 360:2637-44 (2009) DOI:10.1056/NEJMoa0900381 |