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

European Journal of Clinical Investigation
M Y KökerDirk Roos

Abstract

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. We studied the neutrophils from three patients and four carriers in three generations of a Turkish family with X-linked CGD. Carrier detection was carried out by the dihydrorhodamine (DHR)-1,2,3 assay, which measures on a per-cell basis the NADPH oxidase-dependent oxidation of DHR by phagocytes. The X-chromosome inactivation pattern was determined with the HUMARA assay in DNA from leucocytes as well as in DNA from a buccal smear of the four carriers. The three patients were identified by a negative DHR test, and the mutation in their CYBB gene was characterize...Continue Reading

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Citations

Aug 5, 2009·Clinical Reviews in Allergy & Immunology·Wesley H Brooks
Jun 10, 2010·Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology·Rohan AmeratungaDonald R Love
Oct 12, 2010·Journal of Immunological Methods·Michèle G CurtisThomas N Denny
Sep 9, 2008·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Eric M LewisLinda C McPhail
Jul 25, 2009·European Journal of Clinical Investigation·M Y KökerD Roos
Jun 20, 2007·European Journal of Clinical Investigation·M Y KökerD Roos
Aug 6, 2013·The Journal of Allergy and Clinical Immunology·Mustafa Yavuz KökerDirk Roos
Oct 21, 2009·Genetic Testing and Molecular Biomarkers·Maria ChiriacoAndrea Finocchi
Jan 12, 2019·Pediatric Hematology and Oncology·Mariko EguchiMinenori Eguchi-Ishimae
Feb 2, 2010·The Pediatric Infectious Disease Journal·M Yavuz Köker
Feb 26, 2013·British Journal of Haematology·Andranik A Aprikyan, Zaza Khuchua
Jul 3, 2021·Antioxidants·Maria ChiriacoAndrea Finocchi

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