| Literature DB >> 28035544 |
Pandiarajan Vignesh1, Amit Rawat2, Ankur Kumar1, Deepti Suri1, Anju Gupta1, Yu L Lau3, Koon W Chan3, Surjit Singh1.
Abstract
Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. A homozygous mutation (c.835_836delAC, p.T279fsX294), a deletion in NCF2 gene was found in two cases. In the third case, two heterozygous mutations were detected, IVS13-2A>T on one allele and c.1099C>T (p.) on the other allele. The mother of this child was a carrier for the IVS13-2A>T mutation. All three cases had colitis, and it was the initial symptom in two patients. One of the patients also developed a lung abscess due to Nocardia cyriacigeorgica.Entities:
Keywords: Chronic granulomatous disease; autosomal recessive; colitis; dihydrorhodamine 123 assay; mutation; neutrophil cytosolic fraction 2 gene; p67phox protein
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Year: 2016 PMID： 28035544 DOI： 10.1007/s10875-016-0366-2
Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317