Fig 1: Phenotypic and genotypic characterization of the new mutation of the AR670CGD patient from family M. (A) NADPH oxidase activity measured by SOD sensitive-cytochrome c reduction with 5 × 105 purified neutrophils stimulated by PMA (80 ng/mL). (B) Western blot of cytosolic factors p47phox and p67phox analysis of soluble extracts (50 µg of protein in each lane) from purified neutrophils of family M (MA father, MB mother, M2 CGD patient, M1 sister). The p47phox expression was used to control the protein load. (C) Analysis of mutated p67phox mRNA. (D) Analysis of mutated NCF2 gene. (E) Consequence on the sequence of p67phox protein. The molecular consequence is an amino acid change p.ValValAla204-206AlaAlaGlu and p.Ser207-Glu226del in the activation domain of p67phox protein that could be a potential interacting domain with NOX2.