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262298

Detection of NCF-2 Gene Expression in Egyptian Children with Chronic Granulomatous Disease

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Last updated: 24 Dec 2024

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Abstract

Background: An uncommon inherited primary immunodeficiency illness (PID) known as chronic granulomatous disease (CGD) is characterised by an increased vulnerability to serious bacterial and fungal infections. It results from defects in one of the five polypeptide subunits of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) with a resulting failure of the phagocytes in generating a variety of microbicidal reactive oxygen radicals during respiratory burst. Objective: In the present study we aimed to diagnose AR-type of CGD by detection of NCF-2 gene expression using real time RT-PCR as a cheaper diagnostic method for CGD subtypes categorization among CGD children. Patients and methods: This case-control study was conducted on 15 children provisionally diagnosed as CGD patients with dihydrorhodamine (DHR) stimulation index (Group I). The study also included 12 mothers and 8 fathers of the studied patients (Group IIa and IIb respectively) to detect the genetic mutations in carriers, if any, and 14 apparently healthy children as a control group (Group III). Results: In the present study, cases with a fold change of NCF-2 gene expression less than 0.67 were considered defective for NCF-2 gene expression. At this cut-off value, from our molecularly studied subjects, 2 CGD cases and one mother showed under-expression of NCF-2 gene. Conclusion: We could establish the diagnosis of 2 out of 15 CGD cases as AR- CGD form, derived from defects in the NCF-2 gene, which encodes gp67-phox of the oxidase, without the need to use complex and expensive methodologies such as northern blot, or genomic DNA sequencing.  

DOI

10.21608/ejhm.2022.262298

Keywords

CGD, PID, NADPH, NCF-2 gene, DHR, RT-PCR

Authors

First Name

Dalia Youssef

Last Name

Samaha

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Email

daliasamaha2@gmail.com

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Orcid

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First Name

Salwa Ibrahim

Last Name

Bakr

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First Name

Rasha Hassan

Last Name

El Owaidy

MiddleName

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Affiliation

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Orcid

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First Name

Gehad Ahmed

Last Name

Abdelmonem

MiddleName

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Affiliation

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First Name

Nancy Samir

Last Name

Wahba

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Volume

89

Article Issue

1

Related Issue

36332

Issue Date

2022-10-01

Receive Date

2022-09-30

Publish Date

2022-10-01

Page Start

5,266

Page End

5,271

Print ISSN

1687-2002

Online ISSN

2090-7125

Link

https://ejhm.journals.ekb.eg/article_262298.html

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https://ejhm.journals.ekb.eg/service?article_code=262298

Order

176

Type

Original Article

Type Code

606

Publication Type

Journal

Publication Title

The Egyptian Journal of Hospital Medicine

Publication Link

https://ejhm.journals.ekb.eg/

MainTitle

Detection of NCF-2 Gene Expression in Egyptian Children with Chronic Granulomatous Disease

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Article

Created At

22 Jan 2023