MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE

Objective: Myeloperoxidase (MPO) is a hemoprotein expressed in azurophilic granules of neutrophils and lysosomes of monocytes. It is caused by mutations in the MPO gene on chromosome 17 and is estimated to affect 1:2000-4000 people. It is the most common inherited defect of phagocytes. Microbial kil...

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Autores principales:	Özlem ARMAN BİLİR, Namık Yaşar ÖZBEK
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/7789f8a1c3e1409b9699deeae3d05c79
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spelling	oai:doaj.org-article:7789f8a1c3e1409b9699deeae3d05c792021-11-10T04:38:20ZMYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE2531-137910.1016/j.htct.2021.10.1075https://doaj.org/article/7789f8a1c3e1409b9699deeae3d05c792021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921012220https://doaj.org/toc/2531-1379Objective: Myeloperoxidase (MPO) is a hemoprotein expressed in azurophilic granules of neutrophils and lysosomes of monocytes. It is caused by mutations in the MPO gene on chromosome 17 and is estimated to affect 1:2000-4000 people. It is the most common inherited defect of phagocytes. Microbial killing is impaired in patients with MPO deficiency, but most patients are asymptomatic, except for diabetic patients. In this article, we aimed to present our patients diagnosed with primary MPO deficiency. Methodology: During the investigation for the etiology of neutropenia in the hematology department of our hospital, patients who were diagnosed with MPO deficiency were examined. In the evaluation of the patients, it was observed that the neutrophil count in the hemogram printout and the counted neutrophil count in the peripheral smear were inconsistent. We performed MPO staining with FCM from the peripheral blood samples of the patients and we found that the neutrophils were MPO negative. Results: A 1-day-old male patient has no additional disease (c.608A>C H mutation). C.578G>C mutation was detected in the follow-up due to ANA+ in a 6.5-year-old female patient. A c.2031-2A>C mutation was found in the 18-year-old patient who was being followed up with the diagnosis of Granulamatous Polyangiitis and his sister. A c.493del mutation was detected in an 11-year-old patient who was diagnosed with ITP 5 years ago. The noval mutation was detected in the patient followed up with the diagnosis of retinoblastoma. Conclusion: MPO deficiency may occur primarily as well as secondary. A number of point germ line mutations cause primary MPO deficiency. Most patients asymptomatic without an increase in infection. Severe infectious complications were not observed in any of our patients. We wanted to emphasize that MPO deficiency should also be kept in mind in patients whose neutropenia etiology was investigated.Özlem ARMAN BİLİRNamık Yaşar ÖZBEKElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S57-S58 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 Özlem ARMAN BİLİR Namık Yaşar ÖZBEK MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE
description	Objective: Myeloperoxidase (MPO) is a hemoprotein expressed in azurophilic granules of neutrophils and lysosomes of monocytes. It is caused by mutations in the MPO gene on chromosome 17 and is estimated to affect 1:2000-4000 people. It is the most common inherited defect of phagocytes. Microbial killing is impaired in patients with MPO deficiency, but most patients are asymptomatic, except for diabetic patients. In this article, we aimed to present our patients diagnosed with primary MPO deficiency. Methodology: During the investigation for the etiology of neutropenia in the hematology department of our hospital, patients who were diagnosed with MPO deficiency were examined. In the evaluation of the patients, it was observed that the neutrophil count in the hemogram printout and the counted neutrophil count in the peripheral smear were inconsistent. We performed MPO staining with FCM from the peripheral blood samples of the patients and we found that the neutrophils were MPO negative. Results: A 1-day-old male patient has no additional disease (c.608A>C H mutation). C.578G>C mutation was detected in the follow-up due to ANA+ in a 6.5-year-old female patient. A c.2031-2A>C mutation was found in the 18-year-old patient who was being followed up with the diagnosis of Granulamatous Polyangiitis and his sister. A c.493del mutation was detected in an 11-year-old patient who was diagnosed with ITP 5 years ago. The noval mutation was detected in the patient followed up with the diagnosis of retinoblastoma. Conclusion: MPO deficiency may occur primarily as well as secondary. A number of point germ line mutations cause primary MPO deficiency. Most patients asymptomatic without an increase in infection. Severe infectious complications were not observed in any of our patients. We wanted to emphasize that MPO deficiency should also be kept in mind in patients whose neutropenia etiology was investigated.
format	article
author	Özlem ARMAN BİLİR Namık Yaşar ÖZBEK
author_facet	Özlem ARMAN BİLİR Namık Yaşar ÖZBEK
author_sort	Özlem ARMAN BİLİR
title	MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE
title_short	MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE
title_full	MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE
title_fullStr	MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE
title_full_unstemmed	MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE
title_sort	myeloperoxidase deficiency: single center experience
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/7789f8a1c3e1409b9699deeae3d05c79
work_keys_str_mv	AT ozlemarmanbilir myeloperoxidasedeficiencysinglecenterexperience AT namıkyasarozbek myeloperoxidasedeficiencysinglecenterexperience
_version_	1718440569305300992

MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE

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