Molecular Analysis of Four Cases of Chronic Granulomatous Disease Caused by Defects in NCF-2: the Gene Encoding the p67-phox

Chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder, is caused by mutation in any one of the genes encoding components of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf2 in 4 cgd patients with p67-phox defect in iran.these patients showed classical cgd symptoms. ncf2 sequence analyses revealed two different homozygous mutations including a nonsense mutation in exon 4, c.304c>t (arg 102x) in one case and a ca deletion in exon 13 (leu346fsx380) in one brother and sister; the latter is a new mutation which has not been reported in previous studies.in another patient in whom the attempts to amplify exon 2 individually from genomic dna were unsuccessful, pcr amplification of exon 2 revealed no band of this exon on agarose gel. a pcr amplification mix of exon 2 and exon 7, with an internal control, confirmed the lack of exon 2 in this patient. although a gross deletion in other exons of ncf2 has been previously reported, a large deletion encompassing exon 2 has been not reported yet. this abstract was also presented in esid 2012, florence, italy