| H01094 | |
| H number | H01094 |
| Name | Eosinophil peroxidase deficiency |
| Description | 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. |
| Category | Immune system disease |
| Network | - |
| Gene | EPX [HSA:8288] [KO:K10788] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A00.0Y MeSH: C564893 OMIM: 261500 |
| Reference | PMID:7809065 AUTHORS Romano M, Patriarca P, Melo C, Baralle FE, Dri P TITLE Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect. JOURNAL Proc Natl Acad Sci U S A 91:12496-500 (1994) DOI:10.1073/pnas.91.26.12496 PMID:16926417 AUTHORS Specht S, Saeftel M, Arndt M, Endl E, Dubben B, Lee NA, Lee JJ, Hoerauf A TITLE Lack of eosinophil peroxidase or major basic protein impairs defense against murine filarial infection. JOURNAL Infect Immun 74:5236-43 (2006) DOI:10.1128/IAI.00329-06 PMID:15100311 AUTHORS Forbes E, Murase T, Yang M, Matthaei KI, Lee JJ, Lee NA, Foster PS, Hogan SP TITLE Immunopathogenesis of experimental ulcerative colitis is mediated by eosinophil peroxidase. JOURNAL J Immunol 172:5664-75 (2004) DOI:10.4049/jimmunol.172.9.5664 |