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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:
1864397
•Concept ID:
C5937276
•
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:
1864230
•Concept ID:
C5937167
•
Cell or Molecular Dysfunction
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

Homozygous calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency.
Theocharides AP, Lundberg P, Lakkaraju AK, Lysenko V, Myburgh R, Aguzzi A, Skoda RC, Manz MG
Blood 2016 Jun 23;127(25):3253-9. Epub 2016 Mar 24 doi: 10.1182/blood-2016-02-696310. PMID: 27013444
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

Diagnosis

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
Diagnostic assays for myeloperoxidase and myeloperoxidase deficiency.
Nauseef WM
Methods Mol Biol 2014;1124:537-46. doi: 10.1007/978-1-62703-845-4_32. PMID: 24504973
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
Clinical manifestation of myeloperoxidase deficiency.
Lanza F
J Mol Med (Berl) 1998 Sep;76(10):676-81. doi: 10.1007/s001090050267. PMID: 9766845
Neutrophil function studies in clinical medicine.
Matzner Y
Transfus Med Rev 1987 Dec;1(3):171-81. doi: 10.1016/s0887-7963(87)70019-4. PMID: 2980276

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
A doggy tale: Risk of zoonotic infection with Bordetella bronchiseptica for cystic fibrosis (CF) patients from live licenced bacterial veterinary vaccines for cats and dogs.
Moore JE, Rendall JC, Millar BC
J Clin Pharm Ther 2022 Feb;47(2):139-145. Epub 2021 Jul 30 doi: 10.1111/jcpt.13492. PMID: 34328230
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, Choon SE, Cooper H, Navarini AA, Reynolds NJ, Wahie S, Warren RB, Wright A; APRICOT and PLUM study team, Huffmeier U, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F
Am J Hum Genet 2020 Sep 3;107(3):539-543. Epub 2020 Aug 5 doi: 10.1016/j.ajhg.2020.06.020. PMID: 32758448Free 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
Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit ?
Kutter D, Devaquet P, Vanderstocken G, Paulus JM, Marchal V, Gothot A
Acta Haematol 2000;104(1):10-5. doi: 10.1159/000041062. PMID: 11111115

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
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
Acquired myeloperoxidase deficiency and recurrent infections in a patient with acute myelomonocytic leukemia.
Kitahara M, Kushner JP
Cancer 1979 Dec;44(6):2244-8. doi: 10.1002/1097-0142(197912)44:6<2244::aid-cncr2820440636>3.0.co;2-g. PMID: 228840

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
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
Fungal infections in primary immunodeficiencies.
Antachopoulos C, Walsh TJ, Roilides E
Eur J Pediatr 2007 Nov;166(11):1099-117. Epub 2007 Jun 6 doi: 10.1007/s00431-007-0527-7. PMID: 17551753
Clinical manifestation of myeloperoxidase deficiency.
Lanza F
J Mol Med (Berl) 1998 Sep;76(10):676-81. doi: 10.1007/s001090050267. PMID: 9766845

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