| H01094 | |
| H番号 | H01094 |
| 名称 | 好酸球ペルオキシダーゼ欠損 |
| 概要 | Eosinophil peroxidase deficiency is a rare autosomal recessive abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. Eosinophils are a hallmark of allergic diseases and helminth infection. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | EPX [HSA:8288] [KO:K10788] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.0Y MeSH: C564893 OMIM: 261500 |
| 文献 | PMID:7809065 著者 Romano M, Patriarca P, Melo C, Baralle FE, Dri P タイトル Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect. 雑誌 Proc Natl Acad Sci U S A 91:12496-500 (1994) DOI:10.1073/pnas.91.26.12496 PMID:16926417 著者 Specht S, Saeftel M, Arndt M, Endl E, Dubben B, Lee NA, Lee JJ, Hoerauf A タイトル Lack of eosinophil peroxidase or major basic protein impairs defense against murine filarial infection. 雑誌 Infect Immun 74:5236-43 (2006) DOI:10.1128/IAI.00329-06 PMID:15100311 著者 Forbes E, Murase T, Yang M, Matthaei KI, Lee JJ, Lee NA, Foster PS, Hogan SP タイトル Immunopathogenesis of experimental ulcerative colitis is mediated by eosinophil peroxidase. 雑誌 J Immunol 172:5664-75 (2004) DOI:10.4049/jimmunol.172.9.5664 |