| H00092 | |
| H番号 | H00092 |
| 名称 | T-B- 重症複合免疫不全症 |
| 概要 | Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. It is one of the most severe immunodeficiencies and is associated with severe depletion of B cells, T cells, and NK cells. V(D)J- recombination deficiency caused by defects in recombinase-activating gene 1 (RAG1), RAG2 and Artemis (DCLRE1C) leads to a T-B-SCID phenotype that is characterized by an arrest of B- and T-cell maturation at the stage of pro-B and pre-T cells, respectively, whereas natural killer (NK)-cell maturation is not affected. V(D)J recombination generates the diversity of B- and T-cell primary immune repertoires. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | nt06506(H00092) Double-strand break repair |
| 病因遺伝子 | ADA [HSA:100] [KO:K01488] RAG1 [HSA:5896] [KO:K10628] RAG2 [HSA:5897] [KO:K10988] DCLRE1C [HSA:64421] [KO:K10887] AK2 [HSA:204] [KO:K00939] PRKDC [HSA:5591] [KO:K06642] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.10 ICD-10: D81 MeSH: C563440 OMIM: 102700 601457 602450 267500 615966 |
| 文献 | PMID:14647478 著者 de Villartay JP, Fischer A, Durandy A. タイトル The mechanisms of immune diversification and their disorders. 雑誌 Nat Rev Immunol 3:962-72 (2003) DOI:10.1038/nri1247 PMID:9737224 著者 Ten RM. タイトル Primary immunodeficiencies. 雑誌 Mayo Clin Proc 73:865-72 (1998) DOI:10.4065/73.9.865 PMID:26482257 著者 Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB タイトル Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. 雑誌 J Clin Immunol 35:696-726 (2015) DOI:10.1007/s10875-015-0201-1 PMID:17952897 (RAG1, RAG2, DCLRE1C, ADA) 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:19043417 (AK2) 著者 Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K タイトル Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. 雑誌 Nat Genet 41:101-5 (2009) DOI:10.1038/ng.265 PMID:19075392 (PRKDC) 著者 van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC タイトル A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. 雑誌 J Clin Invest 119:91-8 (2009) DOI:10.1172/JCI37141 |