| #261500 | ||||||||||||||||||||||||||||||||||||
| PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS | ||||||||||||||||||||||||||||||||||||
| Alternative titles; symbols | ||||||||||||||||||||||||||||||||||||
| EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL PRESENTEY ANOMALY | ||||||||||||||||||||||||||||||||||||
| Phenotype Gene Relationships | ||||||||||||||||||||||||||||||||||||
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| Clinical Synopsis | ||||||||||||||||||||||||||||||||||||
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| A number sign (#) is used with this entry because of evidence that the disorder is caused by mutations in the gene for eosinophil peroxidase (EPX; 131399). In Yemenite Jews in Israel, Presentey (1969) and Presentey and Szapiro (1969) described a 'new' anomaly of eosinophils characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining. No connection between the morphologic and presumed enzymatic defect and any illness has been established. Recessive inheritance seems quite clear. Lepelley et al. (1987) described the Presentey anomaly in twin sisters; one had refractory anemia, which may have been coincidental and merely the symptom that brought the twins to attention. In contrast to myeloperoxidase deficiency, in which all neutrophils and monocytes are affected, isolated deficiency of eosinophil peroxidase is very rare (Presentey, (1970, 1984); Presentey and Joshua, 1982; Schaeffer et al., 1977). Hoffmann and Tielens (1987) reported the case of an affected 4-year-old boy of Turkish ancestry whose parents were 'consanguineous in the second degree.' Hoffmann and Tielens (1987) commented on the fact that the use of automated flow-cytochemical analyzers in the hematology laboratory has stimulated interest in peroxidase activity of granulocytes and brought many cases of hereditary and acquired deficiency to attention. It was in this way that their case was detected. Valdes and Calero (1987) described a patient with deficiency of eosinophil peroxidase detected by flow cytochemistry. Electron microscopic analyses of peroxidase-deficient eosinophils showed an increase in the ratio between the size of the matrix and the core of the specific granules (Lepelley et al., 1987; Lejeune et al., 1988). Zabucchi et al. (1992) found 5 eosinophil peroxidase-deficient subjects among 131,000 peripheral blood samples examined by routine automated methods. All met the main criteria: absent or strongly decreased reaction for peroxidase, absent or strongly decreased staining with Sudan Black, and an increased ratio of the granule core volume to the total granule volume. Zabucchi et al. (1992) demonstrated that the increased core-matrix ratio was caused mainly by a decrease of the volume of the matrix and that 2 other matrix proteins, eosinophil cationic protein (131398) and eosinophil-derived neurotoxin (131410), appeared to be present in normal amounts. Romano et al. (1994) demonstrated compound heterozygosity for mutations in the EPX gene in a man with deficiency of eosinophil peroxidase. | ||||||||||||||||||||||||||||||||||||
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