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Chronic granulomatous disease of childhood: an unusual cause of... (2011)

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Title Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year-old man
Published in Clinical and experimental dermatology, Vol. 36, No. 7, p.759-762. ISSN 03076938.
Author G. Isman-Nelkenbaum; B. Wolach; R. Gavrieli; D. Roos; E. Sprecher; E. Bash; A. Gat; H. Sprecher; R. Ben-Ami; T. Zeeli
Degree grantor Universiteit van Amsterdam
Date 2011
Language English
Type Article
Abstract Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency that affects 1 : 250 000 of the population, which is characterized by recurrent bacterial and fungal infections and by granuloma formation. We investigated a 61-year-old man presented with a 20-year history of a relapsing skin rash appearing as mildly pruritic and erythematous plaques affecting various body regions. Cutaneous biopsies were taken and sent for histology and tissue culture. Leucocyte function was assessed by determining the generation of reactive oxygen species. Bactericidal activity was assessed in the presence of autologous and homologous sera. Western blotting was performed for protein analysis of the reduced nicotinamide adenine dinucleotide phosphate oxidase system, and mutation screening was carried out using PCR amplification and sequence analysis. Examination of biopsies obtained from lesional skin indicated a suppurative granulomatous process. Tissue cultures grew Aspergillus nidulans and Aspergillus fumigatus (confirmed by PCR). A. nidulans has often been associated with CGD, and the leucocyte function tests supported this diagnosis. Direct DNA sequencing led to the identification of a hemizygous missense novel mutation in CYBB (c. 907C>T), which predicts a p.His303Tyr amino-acid substitution in gp91-phox, thus confirming the diagnosis of CGD. In conclusion, we report a case of a rare inherited immunodeficiency, CGD, in a 61-year-old man, and describe the novel hemizygous missense mutation underlying the condition. Mild forms of usually fatal immunodeficiencies should be considered when assessing the occurrence of unusual infectious diseases in apparently healthy people
Publication http://hdl.handle.net/11245/1.363483
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Persistent Identifier urn:nbn:nl:ui:29-434830
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Repository University of Amsterdam

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