molecular analysis of four cases of chronic granulomatous disease caused by defects in ncf-2: the gene encoding the p67-phox.

نویسندگان

mohsen badalzadeh immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran

fatemeh fattahi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran

mohammad reza fazlollahi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran

shaghayegh tajik immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran

چکیده

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 (arg102x) 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.

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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 pat...

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عنوان ژورنال:
iranian journal of allergy, asthma and immunology

جلد ۱۱، شماره ۴، صفحات ۳۴۰-۳۴۴

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