KEGG   DISEASE: Myeloperoxidase deficiency
Entry
H02025                      Disease                                

Name
Myeloperoxidase deficiency
  Supergrp
Other phagocyte defects [DS:H00101]
Description
Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H02025  Myeloperoxidase deficiency
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
    H02025  Myeloperoxidase deficiency
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C58  Inborn errors of porphyrin or heme metabolism
     H02025  Myeloperoxidase deficiency
Pathway
hsa04145  Phagosome
Gene
MPO [HSA:4353] [KO:K10789]
Other DBs
ICD-11: 4A00.0Y 5C58
ICD-10: E80.3
MeSH: C562864
OMIM: 254600
Reference
  Authors
Lim MS, Elenitoba-Johnson KS.
  Title
The molecular pathology of primary immunodeficiencies.
  Journal
J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X
Reference
PMID:7904599
  Authors
Nauseef WM, Brigham S, Cogley M
  Title
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
  Journal
J Biol Chem 269:1212-6 (1994)
Reference
PMID:9354683
  Authors
Romano M, Dri P, Da Dalt L, Patriarca P, Baralle FE
  Title
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency.
  Journal
Blood 90:4126-34 (1997)
Reference
PMID:9637725
  Authors
DeLeo FR, Goedken M, McCormick SJ, Nauseef WM
  Title
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation.
  Journal
J Clin Invest 101:2900-9 (1998)
DOI:10.1172/JCI2649
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