eMedicine Specialties > Pediatrics: General Medicine > Allergy & Immunology

Myeloperoxidase Deficiency: Differential Diagnoses & Workup

Author: Maureen M Petersen, MD, Fellow in Allergy and Immunology, Walter Reed Army Medical Center
Coauthor(s): Cecilia P Mikita, MD, MPH, Assistant Professor of Pediatrics and Medicine, Uniformed Services University of the Health Sciences; Associate Program Director of Allergy-Immunology Fellowship, Chief of Clinical Services, Staff Allergist/Immunologist, Walter Reed Army Medical Center; Javed Sheikh, MD, Assistant Professor of Medicine, Harvard Medical School; Clinical Director, Division of Allergy and Inflammation, Beth Israel Deaconess Medical Center; Clinical Director, Center for Eosinophilic Disorders, Beth Israel Deaconess Medical Center
Contributor Information and Disclosures

Updated: Oct 29, 2008

Differential Diagnoses

Chronic Granulomatous Disease
Glycogen-Storage Disease Type I
Hyperimmunoglobulinemia E (Job) Syndrome
Kostmann Disease
Leukocyte Adhesion Deficiency
Shwachman-Diamond Syndrome

Other Problems to Be Considered

Neutropenia (of any cause)
Chediak-Higashi syndrome
Neutrophil actin dysfunction
Myelokathexis
Specific granule deficiency
Lazy leukocyte syndrome
Any of the conditions that can cause acquired (secondary) myeloperoxidase (MPO) deficiency

Workup

Laboratory Studies

  • The presence of myeloperoxidase (MPO) can be determined using numerous techniques, including histochemical staining, immunocytochemistry, and flow cytometry. Depending on the assay used, one must ensure that eosinophilic peroxidase (EPO) from eosinophils does not cause false-positive results.
  • The easiest technique is to perform direct visualization of neutrophils on a peripheral blood smear that has been stained for peroxidase. The clinician can ask the pathologist to examine the neutrophils for peroxidase when a peripheral smear is requested.13
  • Dihydrorhodamine 123 (DHR) assay, a flow cytometric assay, is often used to measure the presence of reactive oxygen intermediates in the work-up of a patient with suspected immunodeficiency. This assay is easier, more reliable, and more sensitive than nitroblue tetrazolium dye reduction assay in the diagnosis of chronic granulomatous disease (CGD). At this time, a DHR assay should not be used as a screen for MPO deficiency because of variable results and poor sensitivity in detecting partial MPO deficiency. If a DHR assay is consistent with a diagnosis of CGD but the clinical history is more consistent with MPO deficiency, further laboratory testing should be performed (eg, genetic sequencing or intracellular staining with anti-MPO antibody).14

More on Myeloperoxidase Deficiency

Overview: Myeloperoxidase Deficiency
Differential Diagnoses & Workup: Myeloperoxidase Deficiency
Treatment & Medication: Myeloperoxidase Deficiency
Follow-up: Myeloperoxidase Deficiency
References
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References

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  2. Stefanescu A, Braun S, Ndrepepa G, et al. Prognostic value of plasma myeloperoxidase concentration in patients with stable coronary artery disease. Am Heart J. Feb 2008;155:356-360. [Medline].

  3. Kutter D, Devaquet P, Vanderstocken G, et al. Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit?. Acta Haematol. 2000;104(1):10-5. [Medline].

  4. Nauseef WM. Insights into myeloperoxidase biosynthesis from its inherited deficiency. J Mol Med. Sep 1998;76(10):661-8. [Medline].

  5. Nauseef WM. Lessons from MPO deficiency about functionally important structural features. Jpn J Infect Dis. Oct 2004;57(5):S4-5. [Medline].

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  9. Taioli E, Benhamou S, Bouchardy C, et al. Myeloperoxidase G463A polymorphism and lung cancer: a HuGE genetic susceptibility to environmental carcinogens pooled analysis. Genet Med. Feb 2007;9:67-73. [Medline].

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  11. Ohashi YY, Kameoka Y, Persad AS, et al. Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. Gene. Mar 3 2004;327(2):195-200. [Medline].

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Further Reading

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Keywords

myeloperoxidase deficiency, MPO, MPO deficiency, lead toxicity, iron deficiency, diabetes mellitus, renal transplantation, acute myeloid leukemia, AML, chronic myeloid leukemia, CML, polycythemia vera, Hodgkin disease, Hodgkin's disease, refractory megaloblastic anemia, aplastic anemia, myelofibrosis with myeloid metaplasia, myelodysplastic syndrome, Staphylococcus aureus, Serratia, Escherichia coli, Candida albicans, Candida krusei, Candida stellatoidea, Candida tropicalis, atherosclerosis

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Contributor Information and Disclosures

Author

Maureen M Petersen, MD, Fellow in Allergy and Immunology, Walter Reed Army Medical Center
Maureen M Petersen, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American College of Allergy, Asthma and Immunology, American Thoracic Society, and Clinical Immunology Society
Disclosure: Nothing to disclose.

Coauthor(s)

Cecilia P Mikita, MD, MPH, Assistant Professor of Pediatrics and Medicine, Uniformed Services University of the Health Sciences; Associate Program Director of Allergy-Immunology Fellowship, Chief of Clinical Services, Staff Allergist/Immunologist, Walter Reed Army Medical Center
Cecilia P Mikita, MD, MPH is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American College of Allergy, Asthma and Immunology, and Clinical Immunology Society
Disclosure: Nothing to disclose.

Javed Sheikh, MD, Assistant Professor of Medicine, Harvard Medical School; Clinical Director, Division of Allergy and Inflammation, Beth Israel Deaconess Medical Center; Clinical Director, Center for Eosinophilic Disorders, Beth Israel Deaconess Medical Center
Javed Sheikh, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and American College of Allergy, Asthma and Immunology
Disclosure: UCB Honoraria Speaking and teaching; Sanofi-Aventis Honoraria Speaking and teaching; GlaxoSmithKline Grant/research funds Clinical Trial funding; GlaxoSmithKline Consulting fee Review panel membership; Novartis Honoraria Speaking and teaching; Genentech Honoraria Speaking and teaching; MedPointe Pharmaceuticals  Speaking and teaching

Medical Editor

C Lucy Park, MD, Director, Allergy and Asthma Center, Associate Professor, Department of Pediatrics, University of Illinois at Chicago
C Lucy Park, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Medical Association, Clinical Immunology Society, and Illinois State Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

David J Valacer, MD, Consulting Staff, Hoffman La Roche Pharmaceuticals
David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, and New York Academy of Sciences
Disclosure: Nothing to disclose.

CME Editor

David Pallares, MD, Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville
David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology
Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD, Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School
Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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