Annals of Hematology

, Volume 80, Issue 2, pp 113–115

Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization

Authors

  • A. Rösen-Wolff
    • Department of Pediatrics, University Hospital Carl Gustav Carus, Fetscherstraße 74, 01037 Dresden, Germany e-mail: Klifo@rcs.urz.tu-dresden.de Tel.: +49-351-4637907 Fax: +49-351-4637923
  • W. Soldan
  • K. Heyne
    • Illerweg 73, 24146 Kiel, Germany
  • J. Bickhardt
    • Fachkrankenhaus Coswig, Germany
  • M. Gahr
    • Department of Pediatrics, University Hospital Carl Gustav Carus, Fetscherstraße 74, 01037 Dresden, Germany e-mail: Klifo@rcs.urz.tu-dresden.de Tel.: +49-351-4637907 Fax: +49-351-4637923
  • J. Roesler
    • Department of Pediatrics, University Hospital Carl Gustav Carus, Fetscherstraße 74, 01037 Dresden, Germany e-mail: Klifo@rcs.urz.tu-dresden.de Tel.: +49-351-4637907 Fax: +49-351-4637923
CASE REPORT

DOI: 10.1007/s002770000230

Cite this article as:
Rösen-Wolff, A., Soldan, W., Heyne, K. et al. Ann Hematol (2001) 80: 113. doi:10.1007/s002770000230

Abstract

 Chronic granulomatous disease (CGD) is an inherited disorder characterized by the inability of phagocytes to generate normal amounts of superoxide (O2), leaving patients susceptible to life-threatening infections. It was previously assumed that once carriers of the X-linked form of CGD were found to have 30% or more of functionally normal neutrophils, they would be free of risk for infection because the lyonization ratio was believed to be constant. Our report strongly contradicts this assumption. A 45-year-old X-CGD carrier had approximately 40% of normal neutrophils in her peripheral blood at age 21 years. Recently, she contracted a life-threatening pulmonary infection with Aspergillus fumigatus. After recovery, the ratio of normal-to-nonfunctional neutrophils was re-evaluated. She was found to have only 6–8% of normal neutrophils, suggesting that a striking decrease in the number of normal cells over the past 25 years was the reason for an increased susceptibility to Aspergillus infection. We conclude that age-related acquired skewing of the lyonization ratio can result in an increased susceptibility to life-threatening infections in X-CGD carriers.

Keywords Chronic granulomatous disease (CGD)LyonizationAcquired skewingNeutrophilsAspergillus

Copyright information

© Springer-Verlag Berlin Heidelberg 2001