Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

The Cooperative Roles of Inflammation and Oxidative Stress in the Pathogenesis of Hypertension

“…These components then combine with other NADPH oxidase components, including the cytochrome complex gp91 phox and p22 phox to form the active oxidase complex that donates an electron to oxygen to form superoxide. This superoxide can be further converted to hypochlorous acid in anticipation of the classic respiratory burst through which neutrophils destroy invading microbes by activating proteases such as cathepsin G (147,155). The normal function of NADPH oxidase in the neutrophil and its capacity to generate ROS is thus paramount to its efficacy in eliminating pathogens.…”

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail

“…There are four types of CGD that make up the autosomal forms with mutations in the genes encoding p47phox, p67phox, or p22phox proteins and the most common X-linked CGD type (approximately 75%), with defects in the CYBB gene encoding gp91phox where cytochrome b 558 is absent (X91 0 ) [28^31]. Several types of mutations of gp91phox have been reported in X-linked CGD, including deletional, insertional, splicing, missense, nonsense, and duplicational mutations [30]. In a very few rare cases, missense mutations resulting in normal but nonfunctional levels of cytochrome b 558 have been identi¢ed (X91 þ ) [32^42].…”

Community-acquired pneumonia in children: what to do when there is no response to standard empirical treatment?

“…Further testing confirmed p47-phox deficiency which is a component of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, a known cause of autosomal recessive CGD. 11 The patient is currently being evaluated for a haemopoietic stem cell transplant.…”