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Background  One of the rarest forms of autosomal recessive chronic granulomatous disease (AR‐CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67^phox, a key cytoplasmic protein in the phagocyte NADPH oxidase system. NCF2 is localized on chromosome 1q25, encompasses 40 kb and contains 16 exons.

Materials and methods  We report here the clinical and molecular characterization of six patients with CGD from six consanguineous Turkish families. The ages of the five female patients were between 3 and 22 years and a male patient was 2 years old; all patients showed clear clinical symptoms of CGD.

Results  The mothers of the patients did not show a bimodal histogram pattern specific for X‐CGD in the dihydrorhodamine‐1,2,3 (DHR) assay. Moreover, p67^phox protein expression was not detectable using flow cytometric analysis of the patients …