| H00103 | |
| H番号 | H00103 |
| 名称 | 後期補体経路の障害 |
| 概要 | Late complement component (the final common pathway C5b-C9 components) deficiencies (LCCDs) are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly reduced levels of the respective complement component. Generally, patients with deficiencies of C5, C6, C7, or C8 are particularly susceptible to systemic infections with Neisseria meningitidies and N. gonorrhoeae. Infections are rarely fulminant but are often recurrent and frequently involve unusual serotypes of the organism. |
| 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 | (C5D) C5 [HSA:727] [KO:K03994] (C6D) C6 [HSA:729] [KO:K03995] (C7D) C7 [HSA:730] [KO:K03996] (C8D1) C8A [HSA:731] [KO:K03997] (C8D2) C8B [HSA:732] [KO:K03998] (C9D) C9 [HSA:735] [KO:K04000] C8G [HSA:733] [KO:K03999] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.11 OMIM: 609536 612446 610102 613790 613789 613825 |
| 文献 | PMID:19758139 著者 Pettigrew HD, Teuber SS, Gershwin ME タイトル Clinical significance of complement deficiencies. 雑誌 Ann N Y Acad Sci 1173:108-23 (2009) DOI:10.1111/j.1749-6632.2009.04633.x 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:7730648 (C5) 著者 Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA タイトル Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 雑誌 J Immunol 154:5464-71 (1995) PMID:8690922 (C6) 著者 Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE タイトル Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. 雑誌 J Immunol 156:2309-15 (1996) PMID:8892662 (C7) 著者 Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE タイトル Genetic bases of human complement C7 deficiency. 雑誌 J Immunol 157:4239-43 (1996) PMID:9759902 (C8A) 著者 Kojima T, Horiuchi T, Nishizaka H, Fukumori Y, Amano T, Nagasawa K, Niho Y, Hayashi K タイトル Genetic basis of human complement C8 alpha-gamma deficiency. 雑誌 J Immunol 161:3762-6 (1998) PMID:8098723 (C8B) 著者 Kaufmann T, Hansch G, Rittner C, Spath P, Tedesco F, Schneider PM タイトル Genetic basis of human complement C8 beta deficiency. 雑誌 J Immunol 150:4943-7 (1993) PMID:9144525 (C9) 著者 Witzel-Schlomp K, Spath PJ, Hobart MJ, Fernie BA, Rittner C, Kaufmann T, Schneider PM タイトル The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure. 雑誌 J Immunol 158:5043-9 (1997) |