Chronic granulomatous disease

JW Leiding, SM Holland - Stiehm's Immune Deficiencies, 2020 - Elsevier
Chronic granulomatous disease is a primary immunodeficiency caused by defects in the
structural subunits of the NADPH oxidase. Impaired NADPH oxidase function leads to a …

[HTML][HTML] Structure of the core human NADPH oxidase NOX2

S Noreng, N Ota, Y Sun, H Ho, M Johnson… - Nature …, 2022 - nature.com
NOX2 is the prototypical member of the NADPH oxidase NOX superfamily and produces
superoxide (O2•−), a key reactive oxygen species (ROS) that is essential in innate and …

Structure of human phagocyte NADPH oxidase in the activated state

X Liu, Y Shi, R Liu, K Song, L Chen - Nature, 2024 - nature.com
Phagocyte NADPH oxidase, a protein complex with a core made up of NOX2 and p22
subunits, is responsible for transferring electrons from intracellular NADPH to extracellular …

Tuberculosis and Bacillus Calmette-Guerin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India

P Vignesh, A Sil, R Aggarwal, W Laha… - Journal of clinical …, 2023 - Springer
Chronic granulomatous disease (CGD) is a phagocytic defect characterized by recurrent
bacterial and fungal infections. We report clinical profile of patients with CGD and …

Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype

M Chiriaco, A De Matteis, C Cifaldi, G Di Matteo… - Clinical …, 2023 - Elsevier
Chronic granulomatous disease (CGD) is a human IEI caused by mutations in genes
encoding the NADPH oxidase subunits, the enzyme responsible for the respiratory burst …

[HTML][HTML] Regulation of Derlin-1-mediated degradation of NADPH oxidase partner p22phox by thiol modification

K Miyano, S Okamoto, M Kajikawa, T Kiyohara… - Redox Biology, 2022 - Elsevier
The transmembrane protein p22 phox heterodimerizes with NADPH oxidase (Nox) 1–4 and
is essential for the reactive oxygen species-producing capacity of oxidases. Missense …

[HTML][HTML] Targeted knock-in of NCF1 cDNA into the NCF2 locus leads to myeloid phenotypic correction of p47phox-deficient chronic granulomatous disease

KM Siow, M Güngör, D Wrona, F Raimondi… - … Therapy-Nucleic Acids, 2024 - cell.com
p47 phox-deficient chronic granulomatous disease (p47-CGD) is a primary
immunodeficiency caused by mutations in the neutrophil cytosolic factor 1 (NCF1) gene …

Functional neutrophil disorders: Chronic granulomatous disease and beyond

CS Zerbe, SM Holland - Immunological Reviews, 2024 - Wiley Online Library
Since their description by Metchnikoff in 1905, phagocytes have been increasingly
recognized to be the entities that traffic to sites of infection and inflammation, engulf and kill …

[HTML][HTML] Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature …

G Micheloni, A Frattini, M Donini, S Dusi, A Leszl… - Genes, 2023 - mdpi.com
The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to
chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. Two …

[HTML][HTML] Targeted knock-in of NCF1 cDNA into the NCF2 locus leads to myeloid phenotypic correction of p47phox-deficient chronic granulomatous disease

KM Siow, M Güngör, D Wrona, F Raimondi… - Molecular Therapy …, 2024 - ncbi.nlm.nih.gov
Abstract p47 phox-deficient chronic granulomatous disease (p47-CGD) is a primary
immunodeficiency caused by mutations in the neutrophil cytosolic factor 1 (NCF1) gene …