myeloperoxidase deficiency
myeloperoxidase deficiency
A common (1:500–2000) autosomal recessive condition (OMIM:254600) characterised by neutrophil dysfunction, resulting in a prolonged respiratory burst due to defective post-translational processing of an abnormal precursor protein.Clinical findings
Usually asymptomatic–Candida infection may occur in patients with concomitant diabetes.
Molecular pathology
Defects of MPO on chromosome 17p22 cause myeloperoxidase deficiency.
Treatment
Unnecessary.