Zusammenfassung

• Caused by genetic deficiency of components of NADPH oxidase, which is necessary for effective phagocyte killing.
• Results in recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus spp., Nocardia spp., Serratia marcescens, and Burkholderia cepacia.
• Infections include pneumonia, superficial and deep abscesses, lymphadenitis, and osteomyelitis.
• Antibiotic prophylaxis and early treatment of infections are imperative.
• Haematopoietic stem cell transplantation should be undertaken early if HLA genotypically matched donors are available.
• Somatic gene therapy is effective at least transiently for restoration of NADPH oxidase activity.