| H00098 | |
| H番号 | H00098 |
| 名称 | 慢性肉芽腫症 |
| 概要 | 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 and hence to kill catalase-positive bacteria. The NADPH oxidase is composed of four polypeptide subunits and mutations in the corresponding genes (gp91phox, p22phox, p47phox, and p67phox) are responsible for the four different genetic subgroups of CGD. Most cases (65%) involve mutations in gp91phox and are inherited in an X-linked recessive manner. The remainder are autosomal recessive (AR). |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | インターフェロンガンマ-1a [DR:D03357] |
| コメント | - |
| リンク | ICD-11: 4A00.0Y ICD-10: D71 MeSH: D006105 OMIM: 306400 233700 233710 613960 233690 618935 |
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