Neutrophils, the most abundant human immune cells, are rapidly recruited to sites of
infection, where they fulfill their life-saving antimicrobial functions. While traditionally …

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in
any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

Introduction: Chronic granulomatous disease (CGD) is a primary immunodeficiency
characterized by recurrent, life-threatening bacterial and fungal infections of the skin, the …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

When exposed to certain stimuli, phagocytes (including neutrophils, macrophages and
eosinophils) undergo marked changes in the way they handle oxygen. Firstly, their rate of …

Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40 phox subunit
of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 …

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 …

Background Chronic granulomatous disease (CGD) is a rare phagocytic disorder that results
in not only infections but also potentially severe inflammatory manifestations that can be …