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327556

RAG1: THE CORNERSTONE GENE INVOLVED IN VARIOUS IMMUNE DISEASES AND CANCERS

Article

Last updated: 04 Jan 2025

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Tags

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Abstract

RAG1 is an abbreviation for recombination activating gene-1 which is the cornerstone in the process of V(D)J recombination. The process enables our immune system to produce an unlimited number of antibodies and T-cell receptors to fight almost any infection. RAG1 mutations are greatly involved in the development of primary immunodeficiencies (PID) including the early-onset severe combined immunodeficiency and Omenn Syndrome. Additionally, RAG mutations are found in delayed-onset cases of combined immunodeficiency with autoimmunity and/or granulomas. The early-onset category occurs due to severe immunodeficiency and the delayed-onset one occurs due to immune dysregulation. Furthermore, RAG1 abnormalities are found in several hematological neoplasms such as acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), myelodysplastic syndrome (MDS) and lymphoma. The mechanism by which RAG1 contributes to different types of cancer is not fully understood. In this review, we display the role of RAG1 in the different diseases digging to understand how it works and whether it can be a promising biomarker for the progression of some of these conditions.

DOI

10.21608/bfsa.2023.327556

Keywords

RAG1, V(D)J recombination, mutations, Immunodeficiencies, Leukemia

Authors

First Name

Mariam

Last Name

Fawzy

MiddleName

M.

Affiliation

Department of Biochemistry, Faculty of Pharmacy, Minia University, Minia 61519, Egypt

Email

mariam.mahrous@minia.edu.eg

City

-

Orcid

0009-0008-4590-8959

First Name

Maiiada

Last Name

Nazmy

MiddleName

H.

Affiliation

Department of Biochemistry, Faculty of Pharmacy, Minia University, Minia 61519, Egypt

Email

-

City

-

Orcid

-

First Name

Moustafa

Last Name

Fathy

MiddleName

-

Affiliation

Department of Biochemistry, Faculty of Pharmacy, Minia University, Minia 61519, Egypt

Email

mostafa_fathe@minia.edu.eg

City

-

Orcid

-

Volume

46

Article Issue

2

Related Issue

44483

Issue Date

2023-12-01

Receive Date

2023-03-31

Publish Date

2023-12-01

Page Start

1,085

Page End

1,102

Print ISSN

1110-0052

Online ISSN

3009-7703

Link

https://bpsa.journals.ekb.eg/article_327556.html

Detail API

https://bpsa.journals.ekb.eg/service?article_code=327556

Order

327,556

Type

Review Article

Type Code

2,839

Publication Type

Journal

Publication Title

Bulletin of Pharmaceutical Sciences Assiut University

Publication Link

https://bpsa.journals.ekb.eg/

MainTitle

RAG1: THE CORNERSTONE GENE INVOLVED IN VARIOUS IMMUNE DISEASES AND CANCERS

Details

Type

Article

Created At

25 Dec 2024