scholarly journals Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)

2001 ◽  
Vol 18 (2) ◽  
pp. 163-163 ◽  
Author(s):  
Bénédicte Gérard ◽  
Jamel El Benna ◽  
Françoise Alcain ◽  
Marie-Anne Gougerot-Pocidalo ◽  
Bernard Grandchamp ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Novel Mutations ◽  
Cybb Gene

Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene

2006 ◽  
Vol 34 (4) ◽  
pp. 528-535 ◽  
Author(s):  
Heiko von Goessel ◽  
Johann Peter Hossle ◽  
Reinhard Seger ◽  
Tayfun Gungor
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Novel Mutations ◽  
Cybb Gene

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

2004 ◽  
Vol 116 (1-2) ◽  
pp. 72-82 ◽  
Author(s):  
Marie Jos� Stasia ◽  
Pierre Bordigoni ◽  
Daniel Floret ◽  
Jean Paul Brion ◽  
C�cile Bost-Bru ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Novel Mutations ◽  
Cybb Gene

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

scholarly journals Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease

2008 ◽  
Vol 141 (6) ◽  
pp. 848-851 ◽  
Author(s):  
Shahram Teimourian ◽  
Elham Zomorodian ◽  
Mohsen Badalzadeh ◽  
AliReza Pouya ◽  
Caroline Kannengiesser ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Autosomal Recessive ◽  
Granulomatous Disease ◽  
Novel Mutations

Novel mutations in the CYBB gene causing X-linked chronic granulomatous disease: a case report of 2 patients

2020 ◽  
Vol 7 (2) ◽  
pp. 61-65
Author(s):  
Shama Sud ◽  
Eyal Grunebaum ◽  
Julia Upton ◽  
Vy H.D. Kim
Keyword(s):  
Genetic Testing ◽  
Chronic Granulomatous Disease ◽  
Clinical Presentation ◽  
Prophylactic Antibiotic ◽  
Genetic Mutations ◽  
Unrelated Donor ◽  
Granulomatous Disease ◽  
Novel Mutations ◽  
Hematopoietic Stem ◽  
Cybb Gene

Introduction: Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency caused by mutations in the NADPH complex characterized by recurrent infections, inflammation and autoimmunity. While autosomal recessive forms exist, X-linked CGD makes up the majority of cases, which is caused by mutations in the CYBB gene. Patients are at high risk for infections with catalase positive bacteria and fungi. The prognosis has improved significantly with improvements in disease detection and management, including prophylactic antibiotic and antifungal therapy. Hematopoietic stem cell transplantation (HSCT) is a curative option for patients with a suitable donor. Aim: To report the clinical presentation, immune features and genetic mutations in 2 patients with novel mutations in the CYBB gene causing X-linked CGD who underwent HSCT. Results: Case 1: Patient 1 is a 14-year-old patient who initially presented with disseminated aspergillosis at the age of 3. He was noted to have an abnormal neutrophil oxidative burst index (NOBI) and genetic testing revealed a mutation in the CYBB gene (c.883_87dupGTGGT) consistent with CGD. He successfully underwent HSCT at age 4. At age 10 he developed a primary intracranial rhabdomyosarcoma in the posterior cranial fossa. Case 2: Patient 2 is a 4-year-old male who was worked up for CGD after developing a perianal abscess at 1 month of age followed by Moraxella bacteremia at 2 months of age. He had 2 abnormal NOBIs and genetic testing identified a novel mutation in the CYBB gene that was thought to explain his phenotype (c.941delA). He underwent an HSCT (10/10 HLA matched unrelated donor). Both patients have had normalization of their NOBI post-transplant and remain free of significant infections. Discussion: We report the clinical presentation, immune features and genetic mutations in 2 patients with novel mutations in the CYBB gene causing X-linked CGD. Identifying pathogenic mutations causing CGD is important for a better understanding of genotype–phenotype associations and disease course in this patient population. Statement of novelty: We describe 2 pediatric patients diagnosed with X-linked chronic granulomatous disease due to novel mutations in the 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
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