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Summary 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 gp91phox, 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.

The aim of this study was to assess sleep and pulmonary function in asthmatic and control children. Forty children with well-controlled, stable asthma, and 34 controls (age range: 8.2 to 15.4 years) were monitored with wrist actigraphs and peak-flow meters for 3 consecutive days. In addition, asthma severity was assessed by subjective parental and self-rating scale and symptom checklist. Asthmatic children had poorer sleep quality in comparison to their controls, as manifested in lower percentages of quiet sleep (p < .05) and increased activity level during sleep (p < .05). As expected, asthmatic children had reduced morning peak expiratory flow measures (p < .01) and a higher evening-to-morning drop in peak expiratory flow (p < .005). Peak-flow measures were significantly correlated with subjective and objective sleep measures. In the asthmatic group, sleep measures were also correlated with subjective asthma severity indices and symptom checklists. We conclude that poorer sleep is associated with reduced pulmonary function. The reduced sleep quality, coupled with subjective reports of increased fatigue and reduced alertness found in asthmatic children, suggest that these children are at risk for developing neurobehavioral deficits associated with chronic sleep loss.

We describe three Israeli children with fatal spotted fever. Clinical disease was characterized by irreversible shock, encephalopathy, renal failure, bleeding tendency, and death within 24 hours of admission. None of the patients had a history of tick bite, and no tache noire was noted. One child presented without rash, and the other two did not have antibodies to spotted-fever-group rickettsiae. The disease was confirmed by isolation of Rickettsia conorii from the patients' blood and tissues in cell cultures or from susceptible laboratory animals inoculated with human specimens. The present cases demonstrate the existence of a severe form of Israeli spotted fever in this population that resembles Rocky Mountain spotted fever. Because Israeli spotted fever may follow a quick, unpredictable, rapidly fatal clinical course, specific antimicrobial therapy should be promptly administered whenever the diagnosis is suspected.