Chronic Granulomatosis Disease (CGD) is a rare primary immunodeficiency disorder of bacteria and fungi that cannot be killed by neutrophils and is observed at 100-200 thousand of births. The mutation of one of the oxidase proteins (p22-phox, p47-phox, p67-phox, p40 phox) which constitutes the leucocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme structure leads to autosomal recessive CGD. The mutation of gp91 phox encoded by the CYBB gene causes X-linked CGD.
Functional study of phagocytic cells by DHR assay with PMA stimulation showed a stimulation index (SI) 1.4 fold, which is specific for CGD. MPO expression was in the normal range at cytometry. This known mutation was checked by Sanger sequencing. In the patient’s DNA a homozygous nonsense c.229C>T mutation was found in NCF2 gene (OMIM, 608515), resulting in p.[Arg77Ter] stop codon formation, which causes loss of p67-phox protein formation and causing AR-CGD.
In our studies on the diagnosis of CGD, we observed that patients come from a town, which has a population of 50 thousand and 125 km away from Kayseri City. So far, we have identified 8 patients with GGD in the region and 3 of these patients were lost, 3 of them were bone marrow transplanted, and all of them are well now.
A similar event has been reported in the literature on the presence of a mutation in the CYBA gene which causes AR-CGD in Korea-jeju island.We assumed that there might be an ancestral relation between these families.