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 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

CYTOCHROME b IS PRESENT IN NEUTROPHILS FROM PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE

The Lancet ◽  
1979 ◽  
Vol 313 (8123) ◽  
pp. 949-951 ◽  
Author(s):  
Niels Borregaard ◽  
KirstenStahr Johansen ◽  
Ebbe Taudorff ◽  
JohanH. Wandall
Keyword(s):  
Chronic Granulomatous Disease ◽  
Cytochrome B ◽  
Granulomatous Disease

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 Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease

Blood ◽  
1989 ◽  
Vol 73 (6) ◽  
pp. 1416-1420 ◽  
Author(s):  
CA Parkos ◽  
MC Dinauer ◽  
AJ Jesaitis ◽  
SH Orkin ◽  
JT Curnutte
Keyword(s):  
Chronic Granulomatous Disease ◽  
Cytochrome B ◽  
Autosomal Recessive ◽  
Polyclonal Antibodies ◽  
Granulomatous Disease ◽  
Absorbance Spectrum ◽  
Phagocytic Cells ◽  
Inherited Disorders ◽  
Western Blots ◽  
Respiratory Burst Oxidase

Abstract Chronic granulomatous disease (CGD) is a group of inherited disorders in which phagocytic cells fail to generate antimicrobial oxidants. The various forms of CGD can be classified in terms of the mode of inheritance (either X-linked or autosomal recessive), and whether the neutrophils display the absorbance spectrum of a unique b-type cytochrome important for the function of the respiratory burst oxidase. The finding that purified neutrophil cytochrome b is a heterodimer consisting of a 91kD glycosylated and a 22kD nonglycosylated polypeptide has raised the question of which subunits are absent (or defective) in the various types of CGD. To address this question we have studied the expression of the cytochrome b subunits in three genetically distinct forms of CGD: X-linked/cytochrome b-negative (X-), autosomal recessive/cytochrome b-negative (A-), and autosomal recessive/cytochrome b-positive (A+). Using polyclonal antibodies to each of the two subunits, we prepared Western blots of lysates of intact neutrophils from ten CGD patients. In the controls and three patients with A+ CGD, both cytochrome subunits were easily detected. Consistent with the previously reported finding in five X- patients, neither subunit could be identified in neutrophils from three additional X- patients. Both subunits were also undetectable in four patients with A- CGD (three females, one male). This latter group of patients most likely bears a normal 91kD gene, since the patients are genetically distinct from the 91kD-defective X- group. The mutation in A- CGD, therefore, probably involves the 22kD gene and the eventual expression of the 22kD subunit. Furthermore, the expression of the 91kD subunit in this group of patients appears to be prevented due to the 22kD mutation in a manner converse to that seen in the X- CGD patients. Based on these studies, we hypothesize that the stable of expression of either of the two cytochrome subunits is dependent upon the other.

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 variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b

1983 ◽  
Vol 13 (3) ◽  
pp. 243-247 ◽  
Author(s):  
NIELS BORREGAARD ◽  
ANDREW R. CROSS ◽  
TROELS HERLIN ◽  
OWEN T. G. JONES ◽  
ANTHONY W. SEGAL ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Cytochrome B ◽  
Nitroblue Tetrazolium ◽  
Variant Form ◽  
Granulomatous Disease ◽  
Slide Test

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

Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome b-positive neutrophils

1985 ◽  
Vol 107 (1) ◽  
pp. 102-104 ◽  
Author(s):  
Ron S. Weening ◽  
Lesley H. Adriaansz ◽  
Corry M.R. Weemaes ◽  
Ren Lutter ◽  
Dirk Roos
Keyword(s):  
Chronic Granulomatous Disease ◽  
Cytochrome B ◽  
Granulomatous Disease

scholarly journals Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease

Blood ◽  
1989 ◽  
Vol 73 (6) ◽  
pp. 1416-1420 ◽  
Author(s):  
CA Parkos ◽  
MC Dinauer ◽  
AJ Jesaitis ◽  
SH Orkin ◽  
JT Curnutte
Keyword(s):  
Chronic Granulomatous Disease ◽  
Cytochrome B ◽  
Autosomal Recessive ◽  
Polyclonal Antibodies ◽  
Granulomatous Disease ◽  
Absorbance Spectrum ◽  
Phagocytic Cells ◽  
Inherited Disorders ◽  
Western Blots ◽  
Respiratory Burst Oxidase

Chronic granulomatous disease (CGD) is a group of inherited disorders in which phagocytic cells fail to generate antimicrobial oxidants. The various forms of CGD can be classified in terms of the mode of inheritance (either X-linked or autosomal recessive), and whether the neutrophils display the absorbance spectrum of a unique b-type cytochrome important for the function of the respiratory burst oxidase. The finding that purified neutrophil cytochrome b is a heterodimer consisting of a 91kD glycosylated and a 22kD nonglycosylated polypeptide has raised the question of which subunits are absent (or defective) in the various types of CGD. To address this question we have studied the expression of the cytochrome b subunits in three genetically distinct forms of CGD: X-linked/cytochrome b-negative (X-), autosomal recessive/cytochrome b-negative (A-), and autosomal recessive/cytochrome b-positive (A+). Using polyclonal antibodies to each of the two subunits, we prepared Western blots of lysates of intact neutrophils from ten CGD patients. In the controls and three patients with A+ CGD, both cytochrome subunits were easily detected. Consistent with the previously reported finding in five X- patients, neither subunit could be identified in neutrophils from three additional X- patients. Both subunits were also undetectable in four patients with A- CGD (three females, one male). This latter group of patients most likely bears a normal 91kD gene, since the patients are genetically distinct from the 91kD-defective X- group. The mutation in A- CGD, therefore, probably involves the 22kD gene and the eventual expression of the 22kD subunit. Furthermore, the expression of the 91kD subunit in this group of patients appears to be prevented due to the 22kD mutation in a manner converse to that seen in the X- CGD patients. Based on these studies, we hypothesize that the stable of expression of either of the two cytochrome subunits is dependent upon the other.

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