What happens if you have Nadph oxidase deficiency?

NADPH oxidase (NOX) plays a pivotal role in the production of ROS, and the defect of its different subunits leads to the development of chronic granulomatous disease (CGD).

Why are CGD patients susceptible to catalase positive organisms?

Catalase is an enzyme that can inactivate the hydrogen peroxide that is produced by some bacteria and fungi. It is believed that patients with CGD can use hydrogen peroxide produced by catalase-negative microbes to form reactive oxidants and, consequentially, bypass the intrinsic CGD defect.

What is CGT disease?

Chronic granulomatous disease is the name for a genetically heterogeneous group of immunodeficiencies.

Which congenital immunodeficiency has deficient Nadph oxidase?

NADPH oxidase (NOX) plays a pivotal role in the production of ROS, and the defect of its different subunits leads to the development of chronic granulomatous disease (CGD). The defect of the different NOX subunits in CGD affects different organs.

What is typically the problem with phagocytic function in someone diagnosed with CGD?

In summary, CGD phagocytes fail to make hydrogen peroxide and bleach, leading to infections with only a few bacteria and fungi including Staphylococcus aureus, Burkholderia cepacia complex, Serratia marcescens, Nocardia and Aspergillus.

What are the defects in CGD?

The main defect in chronic granulomatous disease (CGD) is a failure of neutrophils, monocytes, macrophages, and eosinophils to mount a respiratory burst and, therefore, to generate superoxide anions and other reactive oxygen species derived from superoxide, such as hydrogen peroxide.

What is CGT test?

CGT is an advanced carrier genetic test, which determines whether a couple are carriers of genetic mutations that could be transmitted to their children. CGT uses Next-Generation Sequencing (NGS) to analyse a wide panel of disorders including as Cystic Fibrosis, Spinal Muscular Atrophy, Fragile-X Syndrome.

Is DiGeorge syndrome primary or secondary immunodeficiency?

DiGeorge Syndrome (DGS) is a primary immunodeficiency, often but not always, characterized by cellular (T-cell) deficiency, characteristic facies, congenital heart disease and hypocalcemia. DGS is caused by abnormal formation of certain tissues during fetal development.