Myeloperoxidase Deficiency: Case Reports of Two Patients with Different Clinical Presentations
,
Abstract
Myeloperoxidase (MPO) deficiency is a rare genetic disorder affecting neutrophil and monocyte function. It can present with diverse clinical manifestations, from recurrent infections to unexplained systemic symptoms. Here, we present two cases of MPO deficiency with distinct presentations: a 47-year-old female with recurrent pneumonia and a 25-year-old male with pruritus. Both patients were found to have neutropenia, leading to further hematologic evaluation and confirmation of MPO deficiency. This report highlights the variability in clinical manifestations and underscores the importance of considering MPO deficiency in patients with unexplained neutropenia.
[1] Parry MF, Root RK, Metcalf JA, Delaney KK, Kaplow LS, Richar WJ. Myeloperoxidase deficiency: prevalence and clinical
significance. Ann Intern Med. 1981 Sep;95(3):293-301. https://doi.org/10.7326/0003-4819-95-3-293
[2] Pahwa R, Modi P, Jialal I. Myeloperoxidase deficiency. StatPearls [Internet]. 2023.
[3] Marchetti C, Patriarca P, Solero GP, Baralle FE, Romano M. Genetic characterization of myeloperoxidase deficiency in
Italy. Hum Mutat. 2004 May;23(5):496-505. https://doi.org/10.1002/humu.20027
[4] Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, et al. Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease. Am J Hum Genet. 2020 Sep 3;107(3):539-543. https://doi.org/10.1016/j.ajhg.2020.06.020
[5] Lanza F. Clinical manifestation of myeloperoxidase deficiency. J Mol Med (Berl). 1998 Sep;76(10):676-81. https://doi.
org/10.1007/s001090050267
[6] Theocharides AP, Lundberg P, Lakkaraju AK, Lysenko V, Myburgh R, Aguzzi A, et al. Homozygous calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency. Blood. 2016 Jun 23;127(25):3253-9. https://doi.org/10.1182/blood-2016-02-696310
[7] Hampton MB, Kettle AJ, Winterbourn CC. Inside the neutrophil phagosome: oxidants, myeloperoxidase, and bacterial killing. Blood. 1998 Nov 1;92(9):3007-17. https://doi.org/10.1182/blood.V92.9.3007
[8] Lin W, Chen H, Chen X, Guo C. The Roles of Neutrophil-Derived Myeloperoxidase (MPO) in Diseases: The New Progress. Antioxidants (Basel). 2024 Jan 22;13(1):132. https://doi.org/10.3390/antiox13010132
[9] Papayannopoulos V, Metzler KD, Hakkim A, Zychlinsky A. Neutrophil elastase and myeloperoxidase regulate the
formation of neutrophil extracellular traps. J Cell Biol. 2010 Nov 1;191(3):677-91. https://doi.org/10.1083/jcb.201006052
[10] Rex JH, Bennett JE, Gallin JI, Malech HL, Melnick DA. Normal and deficient neutrophils can cooperate to damage Aspergillus fumigatus hyphae. J Infect Dis. 1990 Aug;162(2):523-8. https://doi.org/10.1093/infdis/162.2.523
[11] Diamond RD, Clark RA, Haudenschild CC. Damage to Candida albicans hyphae and pseudohyphae by the myeloperoxidase system and oxidative products of neutrophil metabolism in vitro. J Clin Invest. 1980 Nov;66(5):908-17. https://doi.org/10.1172/JCI109958
[12] Kutter D, Devaquet P, Vanderstocken G, Paulus JM, Marchal V, Gothot A. Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit ? Acta Haematol. 2000;104(1):10-5. https://doi.org/10.1159/000041062
[13] Jain AK, Tewari-Singh N, Inturi S, Orlicky DJ, White CW, Agarwal R. Myeloperoxidase deficiency attenuates nitrogen mustardinduced skin injuries. Toxicology. 2014 Jun 5;320:25-33. https://doi.org/10.1016/j.tox.2014.02.013
[14] Lehners A, Lange S, Niemann G, Rosendahl A, MeyerSchwesinger C, Oh J, et al. Myeloperoxidase deficiency
ameliorates progression of chronic kidney disease in mice. Am J Physiol Renal Physiol. 2014 Aug 15;307(4):F407-17. https://doi.org/10.1152/ajprenal.00262.2014
[15] Mousavi S, Hosseini MH, Sarandili S, Nejati B. Myeloperoxidase Deficiency: A Rare Case. Cureus. 2024;16(7):e63596. https://doi.org/10.7759/cureus.63596
[16] Ren R, Fedoriw Y, Willis MS. The Molecular Pathophysiology, Differential Diagnosis, and Treatment of MPO Deficiency. Experimental pathology. 2012;2:0. https://doi.org/10.4172/2161-0681.1000109
[17] Stendahl O, Molin L, Lindroth M. Granulocyte-mediated release of histamine from mast cells. Effect of myeloperoxidase and its inhibition by antiinflammatory sulfone compounds. Int Arch Allergy Appl Immunol. 1983 Mar;70(3):277-84. https://doi.org/10.1159/000233335
significance. Ann Intern Med. 1981 Sep;95(3):293-301. https://doi.org/10.7326/0003-4819-95-3-293
[2] Pahwa R, Modi P, Jialal I. Myeloperoxidase deficiency. StatPearls [Internet]. 2023.
[3] Marchetti C, Patriarca P, Solero GP, Baralle FE, Romano M. Genetic characterization of myeloperoxidase deficiency in
Italy. Hum Mutat. 2004 May;23(5):496-505. https://doi.org/10.1002/humu.20027
[4] Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, et al. Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease. Am J Hum Genet. 2020 Sep 3;107(3):539-543. https://doi.org/10.1016/j.ajhg.2020.06.020
[5] Lanza F. Clinical manifestation of myeloperoxidase deficiency. J Mol Med (Berl). 1998 Sep;76(10):676-81. https://doi.
org/10.1007/s001090050267
[6] Theocharides AP, Lundberg P, Lakkaraju AK, Lysenko V, Myburgh R, Aguzzi A, et al. Homozygous calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency. Blood. 2016 Jun 23;127(25):3253-9. https://doi.org/10.1182/blood-2016-02-696310
[7] Hampton MB, Kettle AJ, Winterbourn CC. Inside the neutrophil phagosome: oxidants, myeloperoxidase, and bacterial killing. Blood. 1998 Nov 1;92(9):3007-17. https://doi.org/10.1182/blood.V92.9.3007
[8] Lin W, Chen H, Chen X, Guo C. The Roles of Neutrophil-Derived Myeloperoxidase (MPO) in Diseases: The New Progress. Antioxidants (Basel). 2024 Jan 22;13(1):132. https://doi.org/10.3390/antiox13010132
[9] Papayannopoulos V, Metzler KD, Hakkim A, Zychlinsky A. Neutrophil elastase and myeloperoxidase regulate the
formation of neutrophil extracellular traps. J Cell Biol. 2010 Nov 1;191(3):677-91. https://doi.org/10.1083/jcb.201006052
[10] Rex JH, Bennett JE, Gallin JI, Malech HL, Melnick DA. Normal and deficient neutrophils can cooperate to damage Aspergillus fumigatus hyphae. J Infect Dis. 1990 Aug;162(2):523-8. https://doi.org/10.1093/infdis/162.2.523
[11] Diamond RD, Clark RA, Haudenschild CC. Damage to Candida albicans hyphae and pseudohyphae by the myeloperoxidase system and oxidative products of neutrophil metabolism in vitro. J Clin Invest. 1980 Nov;66(5):908-17. https://doi.org/10.1172/JCI109958
[12] Kutter D, Devaquet P, Vanderstocken G, Paulus JM, Marchal V, Gothot A. Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit ? Acta Haematol. 2000;104(1):10-5. https://doi.org/10.1159/000041062
[13] Jain AK, Tewari-Singh N, Inturi S, Orlicky DJ, White CW, Agarwal R. Myeloperoxidase deficiency attenuates nitrogen mustardinduced skin injuries. Toxicology. 2014 Jun 5;320:25-33. https://doi.org/10.1016/j.tox.2014.02.013
[14] Lehners A, Lange S, Niemann G, Rosendahl A, MeyerSchwesinger C, Oh J, et al. Myeloperoxidase deficiency
ameliorates progression of chronic kidney disease in mice. Am J Physiol Renal Physiol. 2014 Aug 15;307(4):F407-17. https://doi.org/10.1152/ajprenal.00262.2014
[15] Mousavi S, Hosseini MH, Sarandili S, Nejati B. Myeloperoxidase Deficiency: A Rare Case. Cureus. 2024;16(7):e63596. https://doi.org/10.7759/cureus.63596
[16] Ren R, Fedoriw Y, Willis MS. The Molecular Pathophysiology, Differential Diagnosis, and Treatment of MPO Deficiency. Experimental pathology. 2012;2:0. https://doi.org/10.4172/2161-0681.1000109
[17] Stendahl O, Molin L, Lindroth M. Granulocyte-mediated release of histamine from mast cells. Effect of myeloperoxidase and its inhibition by antiinflammatory sulfone compounds. Int Arch Allergy Appl Immunol. 1983 Mar;70(3):277-84. https://doi.org/10.1159/000233335
| Files | ||
| Issue | Vol 10 No 6 (2025): November- December | |
| Section | Case Report(s) | |
| Keywords | ||
| Neutrophils Myeloperoxidase (MPO) deficiency Monocyte function | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Nejati B, Aghaei S, Ravaei G. Myeloperoxidase Deficiency: Case Reports of Two Patients with Different Clinical Presentations. CRCP. 2026;10(6):247-252.
