Jpn. J. Infect. Dis., 57, S25-S26, 2004
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Clinical Evaluation of Interferon-Gamma Treatment
to Chronic Granulomatous Disease Patients with Splice Site Mutations
Hiroyuki Nunoi*, Fuminari Ishibashi1,
Tomoyuki Mizukami and Fumio Hidaka
Department of Pediatrics, Miyazaki Medical College, University
of Miyazaki, Miyazaki, 1Department
of Pediatrics, Kumamoto University School of Medicine, Kumamoto,
Japan
*Corresponding author: h-nunoi@fc.miyazaki-u.ac.jp
SUMMARY: IFN-ƒÁ dependent increase of superoxide production by
neutrophils was observed in three patients with Chronic Granulomatous
disease from one family. The patients have the gp91-phox defect
due to a splicing abnormality derived from a silent mutation adjacent
to the third intron of CYBB gene. Apparent differences of splicing
pattern of CYBB gene transcripts in patients' neutrophils were
detected between 1 and 25 days after administration of IFN-ƒÁ.
Furthermore, the transcript containing all missing exons could
be detected in all specimens after the treatment. The changes
of splicing pattern in the transcripts and prolonged effect on
superoxide generating ability of patients' neutrophils indicate
that IFN-ƒÁ induced an ability to correct abnormal splicing of
CYBB gene transcripts in progenitor cells at least in part.