Kell Phenotypes in 15 Japanese Patients with Chronic Granulomatous Disease
โ Scribed by Kazuhiko Ito; Yoshiki Mukumoto; Hitomi Konishi; Nobuo Sakura; Tomofusa Usui
- Book ID
- 115108083
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 103 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0042-9007
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Chronic granulomatous disease (CGD) is a rare congenital disorder characterized by repeated bacterial and fungal infections. Aside from a high incidence of liver abscess, little is known about hepatic involvement in CGD. The aim of this study was to describe the spectrum of liver abnormalities seen
The clinical, biochemical, and molecular analysis of a patient with chronic granulomatous disease (CGD), retinitis pigmentosa (RP), and McLeod phenotype and of his parents demonstrated the X-linked transmission of these three traits in this family and a deletion of the entire X-CGD gene of the patie