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Article

Clinical evaluation of interferon-gamma treatment to chronic granulomatous disease patients with splice site mutations.

Japanese journal of infectious diseases - 1 Oct 2004

Nunoi Hiroyuki, Ishibashi Fuminari, Mizukami Tomoyuki, Hidaka Fumio

Abstract excerpt

IFN-gamma 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...

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Share to Gene Expression Regulation, Enzymologic
Share to Granulomatous Disease, Chronic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interferon-gamma

Share to Membrane Glycoproteins

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Source

Identifiers

PMID: 15507763

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical evaluation of interferon-gamma treatment to chronic granulomatous disease patients with splice site mutations.PMID 15507763Read ↗

Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.Semantic proximity Read ↗

Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutationSemantic proximity Read ↗

Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.Semantic proximity Read ↗

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).Semantic proximity Read ↗

Splice site mutations are a common cause of X-linked chronic granulomatous disease.Semantic proximity Read ↗

Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.Semantic proximity Read ↗

An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.Semantic proximity Read ↗

Enhanced generation of reactive oxygen species by interferon-γ may have contributed to successful treatment of invasive pulmonary aspergillosis in a patient with chronic granulomatous disease.Semantic proximity Read ↗

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.Semantic proximity Read ↗

Targeted Repair of CYBB in X-CGD iPSCs Requires Retention of Intronic Sequences for Expression and Functional Correction.Semantic proximity Read ↗

In vivo interferon-gamma induced changes in gene expression dramatically alter neutrophil phenotype.Semantic proximity Read ↗

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.Semantic proximity Read ↗

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