Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family

Koker M., Sanal O., de Boer M., Tezcan I., Metin A., Tan C., ...More

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, vol.36, no.4, pp.257-264, 2006 (SCI-Expanded) identifier identifier identifier


Background Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of the four known NADPH-oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB, lead to X-linked CGD, responsible for approximately 70% of all CGD cases. The aim of the study was to evaluate the hypothesis that age-related skewing of X-chromosome inactivation, as described in several CGD families, is caused by preferential survival of bone marrow clones with an inactive NADPH oxidase.