| H01264 | |
| H番号 | H01264 |
| 名称 | 免疫不全を伴う肝静脈閉塞性疾患 |
| 概要 | Hepatic venoocclusive disease with immunodeficiency (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Mutations in the gene coding PML nuclear body protein Sp110 were found to be associated with VODI. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SP110 [HSA:3431] [KO:K24503] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.33 ICD-10: K76.5 MeSH: C537257 OMIM: 235550 |
| 文献 | PMID:16648851 著者 Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF タイトル Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. 雑誌 Nat Genet 38:620-2 (2006) DOI:10.1038/ng1780 |