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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): Gene(s) directly associated with this condition or phenotype.	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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Abnormality of blood and blood-forming tissues
- Abnormality of blood and blood-forming tissues
Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
- Reduced neutrophil myeloperoxidase activity
Abnormality of the immune system
- Abnormality of the immune system
- Diminished neutrophil myeloperoxidase activity

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMyeloperoxidase deficiency

Functional neutrophil defect
- Myeloperoxidase 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

See all (1)

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: 21724624 Free 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

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

See all (13)

Diagnosis

Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency.

Abraitytė S, Kotsi E, Devlin LA, Edgar JDM
BMJ Case Rep 2020 Feb 26;13(2) doi: 10.1136/bcr-2019-232741. PMID: 32107256 Free PMC Article

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

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

Clinical manifestation of myeloperoxidase deficiency.

Lanza F
J Mol Med (Berl) 1998 Sep;76(10):676-81. doi: 10.1007/s001090050267. PMID: 9766845

Partial myeloperoxidase deficiency.

Cech P, Schneider P, Bachmann F
Acta Haematol 1982;67(3):180-4. doi: 10.1159/000207052. PMID: 6282028

See all (41)

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: 37954595 Free 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

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

Treatment of prepubertal periodontitis. A case report and discussion.

D'Angelo M, Margiotta V, Ammatuna P, Sammartano F
J Clin Periodontol 1992 Mar;19(3):214-9. doi: 10.1111/j.1600-051x.1992.tb00642.x. PMID: 1556251

See all (11)

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: 37656254 Free 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: 34310245 Free PMC Article

Analysis of Separation of White Blood Cells in Peripheral Blood as an Indicator of MPO Deficiency.

Rośniak-Bąk K, Jeleń A, Bąk M
Ann Clin Lab Sci 2017 Aug;47(4):422-431. PMID: 28801368

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

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

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Clinical prediction guides

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: 24179165 Free PMC Article

Myeloperoxidase deficiency preserves vasomotor function in humans.

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

See all (34)