| H00089 | |
| H番号 | H00089 |
| 名称 | IFN-gamma/IL-12 軸; メンデル遺伝型マイコバクテリア易感染症 (MSMD) |
| 概要 | The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe susceptibility to mycobacteria and are very difficult to treat. Mutations in IL-12p40 or IL-12R beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | nt06518(H00089) JAK-STAT signaling |
| 病因遺伝子 | (IMD27) IFNGR1 [HSA:3459] [KO:K05132] (IMD28) IFNGR2 [HSA:3460] [KO:K05133] (IMD29) IL12B [HSA:3593] [KO:K05425] (IMD30) IL12RB1 [HSA:3594] [KO:K05063] (IMD31) STAT1 [HSA:6772] [KO:K11220] (IMD32) IRF8 [HSA:3394] [KO:K10155] (IMD33) IKBKG [HSA:8517] [KO:K07210] (IMD34) CYBB [HSA:1536] [KO:K21421] (IMD38) ISG15 [HSA:9636] [KO:K12159] (IMD42) RORC [HSA:6097] [KO:K08534] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.2 ICD-10: D84.8 OMIM: 209950 615978 614889 614890 614891 614892 613796 614893 226990 300636 300645 616126 616622 |
| 文献 | PMID:15100664 著者 Rosenzweig SD, Holland SM タイトル Phagocyte immunodeficiencies and their infections. 雑誌 J Allergy Clin Immunol 113:620-6 (2004) DOI:10.1016/j.jaci.2004.02.001 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:18424339 著者 Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. タイトル Genetic diagnosis of primary immune deficiencies. 雑誌 Immunol Allergy Clin North Am 28:387-412, x (2008) DOI:10.1016/j.iac.2008.01.004 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: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:19084105 著者 Al-Muhsen S, Casanova JL タイトル The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 雑誌 J Allergy Clin Immunol 122:1043-51; quiz 1052-3 (2008) DOI:10.1016/j.jaci.2008.10.037 PMID:17293536 著者 Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL タイトル A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. 雑誌 J Med Genet 44:e65 (2007) DOI:10.1136/jmg.2006.043406 |