Article
Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells.
Gene - 10 Apr 2012
Yamada Masafumi, Okura Yuka, Suzuki Yasuto, Fukumura Shinobu, Miyazaki Toru, Ikeda Hisami, Takezaki Shun-Ichiro, Kawamura Nobuaki, Kobayashi Ichiro, Ariga Tadashi
Abstract excerpt
X-linked chronic granulomatous disease (X-CGD) is a primary immunodeficiency disease of phagocytes caused by mutations in the cytochrome b(558)β (CYBB) gene. We, for the first time, detected somatic mosaicism in two unrelated male patients with X-CGD caused by de novo nonsense mutations (p.Gly223X and p.Glu462X) in the CYBB gene. In each patient, a small subset of granulocytes was normal in terms of respiratory...
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