Monocyte α-naphtyl esterase deficiency in chronic granulomatous disease
✍ Scribed by Marie-Anne Gougerot-Pocidalo; Diego Buriot; Claude Griscelli; Jacques Hakim
- Book ID
- 101436637
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 286 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0361-8609
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✦ Synopsis
Abstract
Monocytes from five unrelated children (four boys and a girl) with chronic granulomatous disease were studied for their ability to reduce nitroblue tetrazolium dye after stimulation with zymosan, and for their α‐naphtyl butyrate esterase activity. As expected, monocytes ingested zymosan particles but failed to reduce nitroblue tetrazolium dye. However, monocytes from two boys out of the five patients were α‐naphtyl butyrate esterase‐negative, whereas both their neutrophils and monocytes were positive for granular naphtol AS‐D esterase activity.
📜 SIMILAR VOLUMES
Chronic granulomatous disease (CGD) is mainly caused by mutations in X-linked CYBB that encodes gp91. We have identified two novel mutations in CYBB resulting in the rare X91 + -CGD variant, c.1500T>G (p.Asp500Glu) in two male siblings and c.1463C>A (p.Ala488Asp) in an unrelated male. Zymosan and/or