H00089 | |
H number | H00089 |
Name | IFN-gamma/IL-12 axis; Mendelian susceptibility to mycobacterial disease (MSMD) |
Description | 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. |
Category | Primary immunodeficiency |
Network | nt06518(H00089) JAK-STAT signaling |
Gene | (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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 4A00.2 ICD-10: D84.8 OMIM: 209950 615978 614889 614890 614891 614892 613796 614893 226990 300636 300645 616126 616622 |
Reference | PMID:15100664 AUTHORS Rosenzweig SD, Holland SM TITLE Phagocyte immunodeficiencies and their infections. JOURNAL J Allergy Clin Immunol 113:620-6 (2004) DOI:10.1016/j.jaci.2004.02.001 PMID:17162365 AUTHORS Kumar A, Teuber SS, Gershwin ME. TITLE Current perspectives on primary immunodeficiency diseases. JOURNAL Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 PMID:18424339 AUTHORS Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. TITLE Genetic diagnosis of primary immune deficiencies. JOURNAL Immunol Allergy Clin North Am 28:387-412, x (2008) DOI:10.1016/j.iac.2008.01.004 PMID:17952897 AUTHORS 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. TITLE Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. JOURNAL J Allergy Clin Immunol 120:776-94 (2007) DOI:10.1016/j.jaci.2007.08.053 PMID:26482257 AUTHORS 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 TITLE Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. JOURNAL J Clin Immunol 35:696-726 (2015) DOI:10.1007/s10875-015-0201-1 PMID:19084105 AUTHORS Al-Muhsen S, Casanova JL TITLE The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. JOURNAL J Allergy Clin Immunol 122:1043-51; quiz 1052-3 (2008) DOI:10.1016/j.jaci.2008.10.037 PMID:17293536 AUTHORS 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 TITLE A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. JOURNAL J Med Genet 44:e65 (2007) DOI:10.1136/jmg.2006.043406 |