scholarly journals A Novel Mutation in Chronic Granulomatous Disease: Treating the Family, Not Just the Patient

2019 ◽  
Vol 7 ◽  
Author(s):  
Kristen Lutzkanin ◽  
Daniel J. McKeone ◽  
Robert Greiner ◽  
Doerthe Adriana Andreae
Keyword(s):  
Chronic Granulomatous Disease ◽  
Novel Mutation ◽  
Granulomatous Disease ◽  
The Family

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.

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.

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b 558 in atypical X-linked chronic granulomatous disease

1998 ◽  
Vol 103 (4) ◽  
pp. 377-381 ◽  
Author(s):  
Masahiko Tsuda ◽  
Mizuho Kaneda ◽  
Takeshi Sakiyama ◽  
Ichiro Inana ◽  
Misao Owada ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Cytochrome B ◽  
Novel Mutation ◽  
Granulomatous Disease ◽  
Heme Binding

scholarly journals A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report

2020 ◽  
Vol 31 ◽  
pp. 101213
Author(s):  
Xuehua Xu ◽  
Bingtai Lu ◽  
Yaping Xie ◽  
Diyuan Yang ◽  
Gen Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Chronic Granulomatous Disease ◽  
Novel Mutation ◽  
Granulomatous Disease

scholarly journals A novel mutation in NCF2 resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease

2019 ◽  
Vol 15 (1) ◽  
Author(s):  
Suzan AlKhater
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Early Onset ◽  
Novel Mutation ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Granulomatous Disease ◽  
Recurrent Infections ◽  
Protein Subunit ◽  
Primary Immunodeficiency Disorder

Abstract Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease primarily presents with recurrent infections, and patients may also present with inflammatory conditions, including noninfectious colitis, and an increased frequency of autoimmunity. We report here a patient with CGD in whom the presentation, unlike the classical presentation of CGD, was predominantly of an inflammatory and autoimmune phenotype. Case presentation A 3-year-old Pakistani female presented with bloody diarrhea since the age of 7 days, followed by the development of perianal abscesses and fistula. There was no other history of recurrent infections. The patient subsequently developed joint pain and stiffness with persistently elevated inflammatory markers and elevated anti-cyclic citrullinate peptide (anti-CCP) antibody titer. She was diagnosed with oligoarticular juvenile idiopathic arthritis and colitis. The diagnosis of CGD was later made and was based on the absence of NADPH oxidase activity in the patient’s neutrophils upon phorbol myristate acetate (PMA) stimulation using the dihydrorhodamine-1,2,3 (DHR) flow cytometry test. Targeted next-generation sequencing revealed an unreported deletion mutation in exon 10 as a homozygous loss-of-function variant of the human neutrophil oxidase factor 2 (NCF2) (NCF2: NM_001190789, nucleotide change: c.855_856del:p.T285fs). The gene encodes a protein subunit, p67phox, in the NADPH enzyme complex. Conclusions The case emphasizes the importance of maintaining high clinical suspicion of immunodeficiency and CGD in patients with very-early-onset colitis and autoimmune disorders. This case is important due to its rarity and because it might represent a previously undiscovered mutation, which is possibly more common in the patient’s ethnic group. Other mutations in NCF2 have been linked to inflammatory bowel disease and autoimmunity, but without CGD, suggesting similarities in the pathogenesis.

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
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