Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (<Emphasis Type="Italic">NCF2</Emphasis>) Gene Mutations in Three Unrelated Families |
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Authors: | Pandiarajan Vignesh Amit Rawat Ankur Kumar Deepti Suri Anju Gupta Yu L Lau Koon W Chan Surjit Singh |
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Institution: | 1.Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics,Postgraduate Institute of Medical Education and Research,Chandigarh,India;2.Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine,The University of Hong Kong,Hong Kong,China |
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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. |
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