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Myeloperoxidase deficiency(MPOD)

MedGen UID:
96015
•Concept ID:
C0398595
•
Disease or Syndrome
Synonyms: MPO deficiency; MPOD; Myeloperoxidase deficiency syndrome
SNOMED CT: Myeloperoxidase deficiency syndrome (129644003); Myeloperoxidase deficiency (234433009); MPO - Myeloperoxidase deficiency (234433009)
 
Gene (location): MPO (17q22)
 
Monarch Initiative: MONDO:0009694
OMIM®: 254600
Orphanet: ORPHA2587

Definition

A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus. [from ORDO]

Clinical features

From HPO
Abnormality of blood and blood-forming tissues
MedGen UID:
163092
•Concept ID:
C0850715
•
Finding
An abnormality of the hematopoietic system.
See: Feature record | Search on this feature
Abnormality of the immune system
MedGen UID:
867388
•Concept ID:
C4021753
•
Pathologic Function
An abnormality of the immune system.
See: Feature record | Search on this feature
Diminished neutrophil myeloperoxidase activity
MedGen UID:
1052532
•Concept ID:
CN377344
•
Finding
Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
Reduced neutrophil myeloperoxidase activity
MedGen UID:
1053720
•Concept ID:
CN376971
•
Finding
Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloperoxidase deficiency
Follow this link to review classifications for Myeloperoxidase deficiency in Orphanet.

Professional guidelines

PubMed

Hereditary myeloperoxidase deficiency: a rare condition? Diagnostic possibilities of a differential white cell autoanalyzer (Hemalog-D).
Cappelletti P, Lippi U
Haematologica 1983 Nov-Dec;68(6):736-41. PMID: 6321302

Recent clinical studies

Etiology

Myeloperoxidase deficiency preserves vasomotor function in humans.
Rudolph TK, Wipper S, Reiter B, Rudolph V, Coym A, Detter C, Lau D, Klinke A, Friedrichs K, Rau T, Pekarova M, Russ D, Knöll K, Kolk M, Schroeder B, Wegscheider K, Andresen H, Schwedhelm E, Boeger R, Ehmke H, Baldus S
Eur Heart J 2012 Jul;33(13):1625-34. Epub 2011 Jun 30 doi: 10.1093/eurheartj/ehr193. PMID: 21724624Free PMC Article
Invasive fungal infections in congenital immunodeficiencies.
Antachopoulos C
Clin Microbiol Infect 2010 Sep;16(9):1335-42. doi: 10.1111/j.1469-0691.2010.03289.x. PMID: 20840542
Myeloperoxidase deficiency: an epidemiological study and flow-cytometric detection of other granular enzymes in myeloperoxidase-deficient subjects.
Becker R, Pflüger KH
Ann Hematol 1994 Oct;69(4):199-203. doi: 10.1007/BF02215954. PMID: 7948307
Partial myeloperoxidase deficiency.
Cech P, Schneider P, Bachmann F
Acta Haematol 1982;67(3):180-4. doi: 10.1159/000207052. PMID: 6282028
Nonoxidative fungicidal mechanisms of mammalian granulocytes: demonstration of components with candidacidal activity in human, rabbit, and guinea pig leukocytes.
Lehrer RI, Ladra KM, Hake RB
Infect Immun 1975 Jun;11(6):1226-34. doi: 10.1128/iai.11.6.1226-1234.1975. PMID: 49298Free PMC Article

Diagnosis

Neutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview.
Dinauer MC
Methods Mol Biol 2020;2087:11-29. doi: 10.1007/978-1-0716-0154-9_2. PMID: 31728980
Disorders of neutrophil function: an overview.
Dinauer MC
Methods Mol Biol 2014;1124:501-15. doi: 10.1007/978-1-62703-845-4_30. PMID: 24504971
Diagnostic assays for myeloperoxidase deficiency.
Nauseef WM
Methods Mol Biol 2007;412:525-30. doi: 10.1007/978-1-59745-467-4_32. PMID: 18453132
Disorders of neutrophil function: an overview.
Dinauer MC
Methods Mol Biol 2007;412:489-504. doi: 10.1007/978-1-59745-467-4_30. PMID: 18453130
Partial myeloperoxidase deficiency.
Cech P, Schneider P, Bachmann F
Acta Haematol 1982;67(3):180-4. doi: 10.1159/000207052. PMID: 6282028

Therapy

Severe chronic non-bacterial osteomyelitis in combination with total MPO deficiency and responsiveness to TNFα inhibition.
Sundqvist M, Christenson K, Wekell P, Björnsdottir H, Dahlstrand Rudin A, Sanchez Klose FP, Kallinich T, Welin A, Björkman L, Bylund J, Karlsson-Bengtsson A, Berg S
Front Immunol 2023;14:1233101. Epub 2023 Oct 26 doi: 10.3389/fimmu.2023.1233101. PMID: 37954595Free PMC Article
Invasive fungal infections in congenital immunodeficiencies.
Antachopoulos C
Clin Microbiol Infect 2010 Sep;16(9):1335-42. doi: 10.1111/j.1469-0691.2010.03289.x. PMID: 20840542
Myeloperoxidase deficiency associated with atypical oral candidiasis: A clinical report.
Edgerton M
J Prosthet Dent 1999 Sep;82(3):263-5. doi: 10.1016/s0022-3913(99)70076-4. PMID: 10479248
Polymorphonuclear phagocytosis and killing in workers exposed to inorganic mercury.
Perlingeiro RC, Queiroz ML
Int J Immunopharmacol 1994 Dec;16(12):1011-7. doi: 10.1016/0192-0561(94)90080-9. PMID: 7705962
Candida albicans meningitis in a child with myeloperoxidase deficiency.
Ludviksson BR, Thorarensen O, Gudnason T, Halldorsson S
Pediatr Infect Dis J 1993 Feb;12(2):162-4. doi: 10.1097/00006454-199302000-00015. PMID: 8381226

Prognosis

Myeloperoxidase is a critical mediator of anthracycline-induced cardiomyopathy.
Nettersheim FS, Schlüter JD, Kreuzberg W, Mehrkens D, Grimm S, Nemade H, Braumann S, Hof A, Guthoff H, Peters V, Hoyer FF, Kargapolova Y, Lackmann JW, Müller S, Pallasch CP, Hallek M, Sachinidis A, Adam M, Winkels H, Baldus S, Geißen S, Mollenhauer M
Basic Res Cardiol 2023 Sep 1;118(1):36. doi: 10.1007/s00395-023-01006-0. PMID: 37656254Free PMC Article
Usefulness of oxidative stress marker evaluation at admission to the intensive care unit in patients with COVID-19.
Daskaya H, Yilmaz S, Uysal H, Calim M, Sümbül B, Yurtsever I, Karaaslan K
J Int Med Res 2021 Jul;49(7):3000605211027733. doi: 10.1177/03000605211027733. PMID: 34310245Free PMC Article
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia.
Kalinski T, Jentsch-Ullrich K, Fill S, König B, Costa SD, Roessner A
APMIS 2007 Jul;115(7):875-80. doi: 10.1111/j.1600-0463.2007.apm_600.x. PMID: 17614858
Idiopathic myelofibrosis with neutrophil myeloperoxidase deficiency: a case report.
Caenazzo A, Piva E, Sartori D, Stefani PM
Haematologica 1997 Jul-Aug;82(4):465-7. PMID: 9299865
Role of myeloperoxidase in luminol-dependent chemiluminescence of polymorphonuclear leukocytes.
Dahlgren C, Stendahl O
Infect Immun 1983 Feb;39(2):736-41. doi: 10.1128/iai.39.2.736-741.1983. PMID: 6299947Free PMC Article

Clinical prediction guides

Myeloperoxidase is a critical mediator of anthracycline-induced cardiomyopathy.
Nettersheim FS, Schlüter JD, Kreuzberg W, Mehrkens D, Grimm S, Nemade H, Braumann S, Hof A, Guthoff H, Peters V, Hoyer FF, Kargapolova Y, Lackmann JW, Müller S, Pallasch CP, Hallek M, Sachinidis A, Adam M, Winkels H, Baldus S, Geißen S, Mollenhauer M
Basic Res Cardiol 2023 Sep 1;118(1):36. doi: 10.1007/s00395-023-01006-0. PMID: 37656254Free PMC Article
C5a receptor (CD88) blockade protects against MPO-ANCA GN.
Xiao H, Dairaghi DJ, Powers JP, Ertl LS, Baumgart T, Wang Y, Seitz LC, Penfold ME, Gan L, Hu P, Lu B, Gerard NP, Gerard C, Schall TJ, Jaen JC, Falk RJ, Jennette JC
J Am Soc Nephrol 2014 Feb;25(2):225-31. Epub 2013 Oct 31 doi: 10.1681/ASN.2013020143. PMID: 24179165Free PMC Article
Diagnostic assays for myeloperoxidase deficiency.
Nauseef WM
Methods Mol Biol 2007;412:525-30. doi: 10.1007/978-1-59745-467-4_32. PMID: 18453132
Polymorphonuclear phagocytosis and killing in workers exposed to inorganic mercury.
Perlingeiro RC, Queiroz ML
Int J Immunopharmacol 1994 Dec;16(12):1011-7. doi: 10.1016/0192-0561(94)90080-9. PMID: 7705962
Superoxide initiates oxidation of low density lipoprotein by human monocytes.
Hiramatsu K, Rosen H, Heinecke JW, Wolfbauer G, Chait A
Arteriosclerosis 1987 Jan-Feb;7(1):55-60. doi: 10.1161/01.atv.7.1.55. PMID: 3028347

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