Hematologically important mutations: X-linked chronic granulomatous disease (third update)

D Roos, DB Kuhns, A Maddalena, J Roesler… - Blood Cells, Molecules …, 2010 - Elsevier
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in
250,000 individuals. The disease is caused by a lack of superoxide production by the …

Chronic granulomatous disease: clinical, molecular, and therapeutic aspects

M Chiriaco, I Salfa, G Di Matteo… - Pediatric Allergy and …, 2016 - Wiley Online Library
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by
defects in the genes encoding any of the NADPH oxidase components responsible for the …

Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders

A Stray-Pedersen, HS Sorte, P Samarakoon… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

Molecular diagnosis of chronic granulomatous disease

D Roos, M Boer - Clinical & Experimental Immunology, 2014 - academic.oup.com
Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening
bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and …

[HTML][HTML] Life-threatening infections due to live-attenuated vaccines: early manifestations of inborn errors of immunity

L Pöyhönen, J Bustamante, JL Casanova… - Journal of clinical …, 2019 - Springer
Live-attenuated vaccines (LAVs) can protect humans against 12 viral and three bacterial
diseases. By definition, any clinical infection caused by a LAV that is sufficiently severe to …

[HTML][HTML] Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis

M Chiriaco, G Farinelli, V Capo, E Zonari… - Molecular Therapy, 2014 - cell.com
Regulated transgene expression may improve the safety and efficacy of hematopoietic stem
cell (HSC) gene therapy. Clinical trials for X-linked chronic granulomatous disease (X-CGD) …

[HTML][HTML] Second report of chronic granulomatous disease in Jordan: clinical and genetic description of 31 patients from 21 different families, including families from …

FG Bakri, M Mollin, S Beaumel, B Vigne… - Frontiers in …, 2021 - frontiersin.org
Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused
by mutations in one of the six genes (CYBA, CYBB, NCF1, NCF2, NCF4, and CYBC1/EROS) …

Reduced atherosclerotic burden in subjects with genetically determined low oxidative stress

F Violi, P Pignatelli, C Pignata, A Plebani… - … and Vascular Biology, 2013 - Am Heart Assoc
Objective—NADPH oxidase, one of the most important enzymes producing reactive oxidant
species, is suggested to play a role in experimental atherosclerosis, but its role in human …

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease

N Cotugno, A Finocchi, A Cagigi, G Di Matteo… - Journal of Allergy and …, 2015 - Elsevier
Background Chronic granulomatous disease (CGD) is a primary immune deficiency
characterized by a defect in reactive oxygen species production. Although the effect of CGD …

Diagnostic and treatment options for severe IBD in female X-CGD carriers with non-random X-inactivation

F Hauck, S Koletzko, C Walz, H Bernuth… - Journal of Crohn's …, 2016 - academic.oup.com
Background and Aims: X-linked chronic granulomatous disease [X-CGD] due to hemizygous
mutations in CYBB is characterised by invasive bacterial and fungal infections and …