Chronic Granulomatous Disease on Jeju Island, Korea

Abstract

Genetic Medicine chia coli, non-typhoid Salmonella species, Klebsiella pneumoniae, Serratia marcescens, and Burkholderia cepacia, as well as the fungal genus Aspergillus. 1, 3-6) Isolation of the causative pathogens is essential for appropriate antimicrobial therapy, but it is difficult to identify the causative pathogen in most clinical CGD cases. 5, 6) NADPH oxidase is a multi-component complex composed of a plasma membrane-bound flavocytochrome b 558 subunit and cytosolic proteins p47 phox (phox for phagocytic oxidase), p67 phox , p40 phox , and two small GTPase, Rac2 and Rap1A. 6) The flavocytochrome b 558 subunit is a heterodimer comprised of gp91 phox (also called NOX2, NOX for NADPH oxidase) and p22 phox encoded by CYBB and CYBA respectively, whereas the three components p47 phox , p67 phox , and p40 phox of the cytosolic subunit are encoded

Long-term outcome of patients with p22phox-deficient chronic granulomatous disease on Jeju Island, Korea

“…All patients with CGD on Jeju Island were presumed to be the A22 0 phenotype 11 , 12) . Therefore, we hypothesized that the prognosis of p22 phox -deficient patients with CGD on Jeju Island would not be better than that of those with gp91 phox -deficient CGD.…”

“…We hypothesized that the high prevalence of CGD on Jeju Island was associated with the same mutation inherited from a common proband; all the patients with CGD tested on Jeju Island had an identical and homozygous mutation in the CYBA gene; c.7C>T in CYBA exon 1, and p.Q3X in p22 phox 9) . All patients with CGD on Jeju Island were presumed to be the A22 0 phenotype (where A indicates AR, and the superscript 0 indicates a complete absence of the affected subunit) 11 , 12) .…”