KEGG   DISEASE: Eosinophil peroxidase deficiency
Entry
H01094                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H01094  Eosinophil peroxidase deficiency
Gene
EPX [HSA:8288] [KO:K10788]
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
Reference
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
Reference
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

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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