Cutaneous granuloma caused by Rhizopus oryzae with a novel mutation in the CYBB gene in a monozygotic male twin

2018 ◽  
Vol 32 (5) ◽  
pp. e184-e185
Author(s):  
Z.Y. Wang ◽  
J.X. He ◽  
Z.G. Xu ◽  
Z. Xu ◽  
L. Ma
Keyword(s):  
Rhizopus Oryzae ◽  
Novel Mutation ◽  
Cybb Gene ◽  
Cutaneous Granuloma ◽  
Male Twin

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.

False-positive HIV serology, Candida lusitaniae pneumonia, and a novel mutation in the CYBB gene

Immunobiology ◽  
2021 ◽  
pp. 152110
Author(s):  
Aaqib Zaffar Banday ◽  
Lokesh Nataraj ◽  
Ankur Kumar Jindal ◽  
Harsimran Kaur ◽  
Anjani Gummadi ◽  
...  
Keyword(s):  
False Positive ◽  
Novel Mutation ◽  
Cybb Gene ◽  
Candida Lusitaniae

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

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
Dcc Gene

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

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