Myeloperoxidase Deficiency: Case Reports of Two Patients with Different Clinical Presentations

Babak  Nejati; Shalaleh  Aghaei; Gholamreza Ravaei

doi:10.18502/crcp.v10i6.21609

Babak Nejati Hematology and Oncology Research Center, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Shalaleh Aghaei Hematology and Oncology Research Center, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Gholamreza Ravaei Hematology and Oncology Research Center, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

DOI: https://doi.org/10.18502/crcp.v10i6.21609

Keywords: Neutrophils; Myeloperoxidase (MPO) deficiency; Monocyte function

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.