Ontology highlight
ABSTRACT:
SUBMITTER: Klatt D
PROVIDER: S-EPMC6829751 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Klatt Denise D Cheng Erica E Philipp Friederike F Selich Anton A Dahlke Julia J Schmidt Reinhold E RE Schott Juliane W JW Büning Hildegard H Hoffmann Dirk D Thrasher Adrian J AJ Schambach Axel A
Stem cell reports 20190919 4
Mutations in the NADPH oxidase, which is crucial for the respiratory burst in phagocytes, result in chronic granulomatous disease (CGD). The only curative treatment option for CGD patients, who suffer from severe infections, is allogeneic bone marrow transplantation. Over 90% of patients with mutations in the p47<sup>phox</sup> subunit of the oxidase complex carry the deletion c.75_76delGT (ΔGT). This frequent mutation most likely originates via gene conversion from one of the two pseudogenes NC ...[more]