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Entry | Name | Description | Category | Pathway | Gene |
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H00089 |
IFN-gamma/IL-12 axis Mendelian susceptibility to mycobacterial disease (MSMD) |
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 ... | Primary immunodeficiency |
(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] |
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H00098 | Chronic granulomatous disease | Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals ... | Primary immunodeficiency |
(CGDX) CYBB [HSA:1536] [KO:K21421] (CGD1) NCF1 [HSA:653361] [KO:K08011] (CGD3) NCF2 [HSA:4688] [KO:K08010] (CGD3) NCF4 [HSA:4689] [KO:K08012] (CGD4) CYBA [HSA:1535] [KO:K08009] (CGD5) CYBC1 [HSA:79415] [KO:K25863] |
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H01167 | Granulibacter infection | Granulibacter is a gram-negative acetic acid bacterium that is recently reported to be a human opportunistic pathogen. Granulibacter has been isolated from patients with chronic granulomatous disease, ... | Bacterial infectious disease |
CYBB (Chronic granulomatous disease) [HSA:1536] [KO:K21421] CYBA (Chronic granulomatous disease) [HSA:1535] [KO:K08009] NCF1 (Chronic granulomatous disease) [HSA:653361] [KO:K08011] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |