Incidence of myeloperoxidase deficiency in an area of northern Italy: histochemical, biochemical and functional studies

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Abstract
Subjects (45) with a complete deficiency of myeloperoxidase were identified in an area of the region Friuli-Venezia Giulia in northeastern Italy using the Hemalog D system as the screening technique. Histochemical and biochemical tests performed on the leukocytes of some of these subjects confirmed the defects shown by the Hemalog D system. The defect was of genetic origin in 7 subjects. The genetic origin could be suspected in another 8 subjects since > 2 affected members were present in a given family. Eosinophil peroxidase, which is present in MPO [myeloperoxidase]-deficient subjects, interfered with the guaiacol assay of MPO, and in several cases masked the genetic transmission. An assay was developed using o-dianisidine as the electron donor which considerably reduced the interference by EPO [eosinophil peroxidase]. With this assay an autosomal recessive pattern of inheritance was found. The MPO-deficient leukocytes had a higher respiratory burst than control cells and an impaired bactericidal activity, at early postphagocytic periods, which became comparable to that of control cells at later stages. Particle ingestion by MPO-deficient cells was normal.