An Iranian Patient Suffering from Chronic Granulomatous Disease, with Mutation in the NCF1 Gene

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Salami Fereshte; Mozafari Nezhad Ronak; Shariati Sahar; MIRMINACHI BABAK

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Journal Paper

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Journal: Immunology and Genetics Journal Year:2020 | Volume:3 | Issue:1 Page(s): 60-65

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Title

An Iranian Patient Suffering from Chronic Granulomatous Disease, with Mutation in the NCF1 Gene

Author(s)

Salami Fereshte | Mozafari Nezhad Ronak | Shariati Sahar | MIRMINACHI BABAK | Issue Writer Certificate

Keywords

chronic granulomatous disease

NCF1 gene

nicotinamide adenine dinucleotide phosphate oxidase enzyme

p47Phox

Abstract

CGD is an innate immunodeficiency characterized by an increased susceptibility to recurrent infections and granulomatous inflammation. CGD results from the loss of phagocyte superoxide production caused by a failure of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme. It is caused by recessive mutations in any of four genes that encode subunits of the NADPH oxidase. The most common autosomal recessive form of CGD is p47Phox encoded by the NCF1 gene which is clinically milder. In this case study, we report a boy with lung abscess and recurrent oral thrush presentations. Whole exome sequencing (WES) test was performed to identify the underlying genetic mutation in this patient. WES of the patient reported a homozygous deletion mutation in the NCF1 gene (NM_608512: exon2: c. 75_76delGT). Our data shows that early detection of NCF1 mutation has a wide heterogeneity in clinical manifestations of the patients.

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References

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c. 579G>A)

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APA: Copy

Salami, Fereshte, Mozafari Nezhad, Ronak, Shariati, Sahar, & MIRMINACHI, BABAK. (2020). An Iranian Patient Suffering from Chronic Granulomatous Disease, with Mutation in the NCF1 Gene. IMMUNOLOGY AND GENETICS JOURNA, 3(1), 60-65. SID. https://sid.ir/paper/761748/en

Vancouver: Copy

Salami Fereshte, Mozafari Nezhad Ronak, Shariati Sahar, MIRMINACHI BABAK. An Iranian Patient Suffering from Chronic Granulomatous Disease, with Mutation in the NCF1 Gene. IMMUNOLOGY AND GENETICS JOURNA[Internet]. 2020;3(1):60-65. Available from: https://sid.ir/paper/761748/en

IEEE: Copy

Fereshte Salami, Ronak Mozafari Nezhad, Sahar Shariati, and BABAK MIRMINACHI, “An Iranian Patient Suffering from Chronic Granulomatous Disease, with Mutation in the NCF1 Gene,” IMMUNOLOGY AND GENETICS JOURNA, vol. 3, no. 1, pp. 60–65, 2020, [Online]. Available: https://sid.ir/paper/761748/en

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