scholarly journals Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

2014 ◽  
Vol 6 (4) ◽  
pp. 366 ◽  
Author(s):  
Sang-Mi Song ◽  
Mi-Ran Park ◽  
Do-Soo Kim ◽  
Jihyun Kim ◽  
Yae-Jean Kim ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Novel Mutation ◽  
Granulomatous Disease ◽  
Cybb Gene

scholarly journals Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
J. F. Moreau ◽  
John A. Ozolek ◽  
P. Ling Lin ◽  
Todd D. Green ◽  
Elaine A. Cassidy ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Fungal Infections ◽  
Novel Mutation ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Unknown Origin ◽  
Granulomatous Disease ◽  
Cybb Gene ◽  
Inherited Immunodeficiency ◽  
Peritoneal Biopsy ◽  
Immunodeficiency Syndrome

Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation. We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD. Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children.

A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease

2018 ◽  
Vol 65 (12) ◽  
pp. e27382
Author(s):  
Nuria B. Zurro ◽  
José A. Tavares de Albuquerque ◽  
Tábata T. França ◽  
Paola Vendramini ◽  
Christina Arslanian ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Novel Mutation ◽  
Granulomatous Disease ◽  
Chronic Colitis ◽  
Recurrent Pneumonia ◽  
Cybb Gene

A novel mutation within exon 12 of the CYBB gene resulting in severe form of x-link chronic granulomatous disease

2007 ◽  
Vol &NA; ◽  
pp. S108-S109
Author(s):  
Sureerat Pongpreuksa ◽  
Orathai Jirapongsananuruk ◽  
Deborah Noack ◽  
Siribangon Boonchoo ◽  
Charin Thepthai ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Novel Mutation ◽  
Severe Form ◽  
Granulomatous Disease ◽  
Cybb Gene

Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease

2014 ◽  
Vol 43 (6) ◽  
pp. 585-594 ◽  
Author(s):  
Sun Hi Ko ◽  
Jung Woo Rhim ◽  
Kyung Sue Shin ◽  
Youn Soo Hahn ◽  
So Young Lee ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Korean Families ◽  
Cybb Gene

scholarly journals X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91-phox Component of Respiratory-Burst Oxidase

1998 ◽  
Vol 62 (6) ◽  
pp. 1320-1331 ◽  
Author(s):  
Julie Rae ◽  
Peter E. Newburger ◽  
Mary C. Dinauer ◽  
Deborah Noack ◽  
Penelope J. Hopkins ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Respiratory Burst ◽  
Granulomatous Disease ◽  
Gene Encoding ◽  
Disease Mutations ◽  
Cybb Gene ◽  
Respiratory Burst Oxidase

scholarly journals 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 mutation

Blood ◽  
2000 ◽  
Vol 95 (11) ◽  
pp. 3548-3554 ◽  
Author(s):  
Antonio Condino-Neto ◽  
Peter E. Newburger
Keyword(s):  
B Cell ◽  
Chronic Granulomatous Disease ◽  
Cell Line ◽  
Interferon Gamma ◽  
Granulomatous Disease ◽  
First Intron ◽  
Cybb Gene ◽  
Nuclear Rna ◽  
Ifn Γ

Abstract X-linked chronic granulomatous disease (CGD) derives from defects in the CYBB gene, which encodes the gp91-phox component of NADPH oxidase. We studied the molecular basis of the disease in a kindred with variant CGD, due to a single base substitution at the sixth position of CYBB first intron. The patients' phagocytes have been shown previously to greatly increase superoxide release in response to interferon-gamma (IFN-γ) in vitro and in vivo. We examined CYBB gene expression in an Epstein-Barr virus (EBV)-transformed B-cell line from 1 patient in this kindred. These cells showed markedly decreased levels of CYBB transcripts in total RNA (5% of normal) and nuclear RNA (1.4% of normal), despite equal CYBB transcription rates in the CGD and control cells. Incubation with IFN-γ produced a 3-fold increase in CYBBtotal messenger RNA (mRNA) levels in the patient's cells, and decreased nuclear transcripts to undetectable levels. Reverse transcriptase–polymerase chain reaction analysis of RNA splicing revealed a preponderance of unspliced CYBB transcripts in the patient's nuclear RNA. In vitro incubation with IFN-γ increased by 40% the ratio of spliced relative to unspliced CYBB mRNA in nuclei from the CGD B-cell line. Total RNA harvested from the same patient's monocytes, on and off therapy with IFN-γ, showed a similar improvement in splicing. We conclude that IFN-γ partially corrects a nuclear processing defect due to the intronic mutation in theCYBB gene in this kindred, most likely by augmentation of nuclear export of normal transcripts, and improvement in the fidelity of splicing at the first intron.

scholarly journals Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

Blood ◽  
2005 ◽  
Vol 105 (1) ◽  
pp. 61-66 ◽  
Author(s):  
Baruch Wolach ◽  
Yitshak Scharf ◽  
Ronit Gavrieli ◽  
Martin de Boer ◽  
Dirk Roos
Keyword(s):  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
X Chromosome ◽  
Clinical Symptoms ◽  
Novel Mutation ◽  
Late Presentation ◽  
Granulomatous Disease ◽  
Phagocyte Nadph Oxidase ◽  
Mucosal Cells ◽  
General Defect

Abstract Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme expression of the mutated gene. Here, we report on a woman with a novel mutation in CYBB (CCG[90-92] → GGT), predicting Tyr30Arg31 → stop, Val in gp91phox, who presented with clinical symptoms at the age of 66. The mutation was present in heterozygous form in genomic DNA from her leukocytes but was fully expressed in mRNA from these cells, indicating that in her leukocytes the X chromosome carrying the nonmutated CYBB allele had been inactivated. Indeed, only 0.4% to 2% of her neutrophils showed NADPH oxidase activity. This extreme skewing of her X-chromosome inactivation was not found in her cheek mucosal cells and is thus not due to a general defect in gene methylation on one X chromosome. Moreover, the CYBB mutation was not present in the DNA from her cheek cells and was barely detectable in the DNA from her memory T lymphocytes. Thus, this patient shows a somatic mosaic for the CYBB mutation, which probably originated during her lifetime in her bone marrow.

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease

2018 ◽  
Vol 40 (5) ◽  
pp. e268-e272 ◽  
Author(s):  
Shahram Teimourian ◽  
Faezeh Sazgara ◽  
Martin de Boer ◽  
Karin van Leeuwen ◽  
Dirk Roos ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Cybb Gene ◽  
New Mutations
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