MYELOPEROXIDASE DEFICIENCY: SINGLE CENTER EXPERIENCE

Myeloperoxidase (MPO) is a hemoprotein expressed in azurophilic granules of neutrophils and lysosomes monocytes. It caused by mutations the MPO gene on chromosome 17 estimated to affect 1:2000-4000 people. most common inherited defect phagocytes. Microbial killing impaired patients with deficiency, but are asymptomatic, except for diabetic patients. In this article, we aimed present our diagnosed primary deficiency. During investigation etiology neutropenia hematology department hospital, who were deficiency examined. evaluation patients, it was observed that neutrophil count hemogram printout counted peripheral smear inconsistent. We performed staining FCM from blood samples found negative. A 1-day-old male patient has no additional disease (c.608A>C H mutation). C.578G>C mutation detected follow-up due ANA+ 6.5-year-old female patient. c.2031-2A>C 18-year-old being followed up diagnosis Granulamatous Polyangiitis his sister. c.493del an 11-year-old ITP 5 years ago. The noval retinoblastoma. may occur primarily as well secondary. number point germ line cause Most asymptomatic without increase infection. Severe infectious complications not any wanted emphasize should also be kept mind whose investigated.