E-ISSN 1658-8223 | ISSN 1658-645X
 
2026, Vol: 14, Issue: 3
14 / 3Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles
Required files to be uploaded

MANUSCRIPT CHECKLIST_(v2r)_
Title Page

Case Report
Online Published: 05 Feb 2018
 


A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome

Mohammed A Al-suhaibani.


Abstract
Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, diarrhoea, alopecia, and failure to thrive. The recombination activating enzymes RAG1 and RAG2 have a crucial role in both B and T cells development. The majority of mutations are missense mutations in recombination activating genes RAG1 and RAG2. We report a 4 months old Saudi girl with a novel homozygous deletion mutation in recombination activating gene 1.

Key words: Omenn Syndrome


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Mohammed A Al-Suhaibani
on Google
on Google Scholar

How to Cite this Article
Pubmed Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci. 2014; 2(2): 44-47.

Web Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. https://www.mjhs-mu.org/?mno=290215 [Access: June 27, 2026].

AMA (American Medical Association) Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci. 2014; 2(2): 44-47.


Vancouver/ICMJE Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci. (2014), [cited June 27, 2026]; 2(2): 44-47.


Harvard Style

Mohammed A Al-Suhaibani (2014) A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci, 2 (2), 44-47.


Turabian Style

Mohammed A Al-Suhaibani. 2014. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah Journal of Health Sciences, 2 (2), 44-47.


Chicago Style

Mohammed A Al-Suhaibani. "A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome." Majmaah Journal of Health Sciences 2 (2014), 44-47.


MLA (The Modern Language Association) Style

Mohammed A Al-Suhaibani. "A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome." Majmaah Journal of Health Sciences 2.2 (2014), 44-47. Print.


APA (American Psychological Association) Style

Mohammed A Al-Suhaibani (2014) A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah Journal of Health Sciences, 2 (2), 44-47.




Most Viewed Articles
Most Accessed Articles

  • Prevalence and Risk Factors of Hypercholesterolemia in Majmaah, Saudi Arabia
    Khalid El Tohami Medani, Mohammed Abdullah Al Mansour, Elsadig Yousif Mohamed, Fahad Alfhaid, Talal Shakhs Alghamdi, Waqas Sami, Sawsan Mustafa Abdalla, Mansour Khater Al Zahrani
    Majmaah J Heal Sci. 2018; 6(1): 34-41
    » Abstract » doi: 10.5455/mjhs.2018.01.006

  • Physical Therapy Intervention in Post Stroke Shoulder Subluxation: A Narrative Review
    Mazen Alqahtani
    Majmaah J Heal Sci. 2018; 6(1): 48-60
    » Abstract » doi: 10.5455/mjhs.2018.01.008

  • Gentamicin induced neurodegenerative changes in auditory cortex of adult Albino rats
    Rehan M Asad, Moattar R Rizvi, Sami Waqas, Kamran Afzal
    Majmaah J Heal Sci. 2013; 1(1): 11-17
    » Abstract » doi: 10.12816/0004766

  • Parental Knowledge, Attitude and Practice on Antibiotic use for Upper Respiratory Tract Infections in Children
    Khaled Al-Dossari
    Majmaah J Heal Sci. 2013; 1(1): 33-45
    » Abstract » doi: 10.12816/0004769

  • Prevalence of Hypertriglyceridemia in Patients Attending Primary Health Care Centers in Majmaah, Saudi Arabia
    Fahad Alfhaid
    Majmaah J Heal Sci. 2018; 6(1): 10-16
    » Abstract » doi: 10.5455/mjhs.2018.01.003

    •
    Most Downloaded
    Top Downloaded Articles

  • Medical Waste Management Survey in Primary Health Care Centers, Saudi Arabia
    Eltigani O.M Omer, Ali S. R. Alsubaie
    Majmaah J Heal Sci. 2017; 5(1): 7-22
    » Abstract » doi: 10.5455/mjhs.2017.01.003

  • Wet cupping (Hijama) positively and significantly impacted multiple hematological parameters
    Abdulraheem Alshareef, Ahmad Khalaf Alsaedi, Ahmad Abdulaziz Alnakhli, Abdulrahman Amer Albeladi, Raed Saad AlHejili, Mohammed Siddig Younis
    Majmaah J Heal Sci. 2021; 9(2): 98-112
    » Abstract » doi: 10.5455/mjhs.2021.02.011

  • Prevalence & Perception of CAM Usage in Majmaah, Kingdom of Saudi Arabia
    Syed Yousaf Kazmi, Waqas Sami, Saud Ibnsaut Alharbi, Meshaal almeshaal, Anas Alzahrani, Fahad Alyousif, Osama Alenezi
    Majmaah J Heal Sci. 2018; 6(2): 50-61
    » Abstract » doi: 10.5455/mjhs.2018.02.007

  • Physical Therapy Intervention in Post Stroke Shoulder Subluxation: A Narrative Review
    Mazen Alqahtani
    Majmaah J Heal Sci. 2018; 6(1): 48-60
    » Abstract » doi: 10.5455/mjhs.2018.01.008

  • Food Poisoning Knowledge, Attitudes and Practice of Students in Majmaah University
    Saeed Saleh Banawas
    Majmaah J Heal Sci. 2019; 7(2): 1-13
    » Abstract » doi: 10.5455/mjhs.2019.02.002

    •
    Most Cited Articles
    Most Cited Articles

  • Knowledge, Attitude and Practice of Parents towards Childhood Vaccination
    Jamman Al-Zahrani
    Majmaah J Heal Sci. 2013; 1(1): 23-32
    » Abstract » doi: 10.12816/0004768
    Cited : 58 times [Click to see citing articles]

  • Parental Knowledge, Attitude and Practice on Antibiotic use for Upper Respiratory Tract Infections in Children
    Khaled Al-Dossari
    Majmaah J Heal Sci. 2013; 1(1): 33-45
    » Abstract » doi: 10.12816/0004769
    Cited : 30 times [Click to see citing articles]

  • The prevalence of Vitamin D deficiency in Type 2 Diabetic patients
    Mansour Al-Zaharani
    Majmaah J Heal Sci. 2013; 1(1): 18-22
    » Abstract » doi: 10.12816/0004767
    Cited : 18 times [Click to see citing articles]

  • Effect of Aerobic Exercises on Blood Pressure in Mild and Moderate Hypertensive Middle-aged and Older Patients
    Abu Shaphe, Irshad Ahmad, Faizan Z Kashoo, Shadabuddin
    Majmaah J Heal Sci. 2013; 1(1): 46-52
    » Abstract » doi: 10.12816/0004770
    Cited : 7 times [Click to see citing articles]

  • Tuberculosis Time bomb - A Global Emergency: Need for Alternative Vaccines
    Manzoor Ahmad Mir, Raid Al-baradie
    Majmaah J Heal Sci. 2013; 1(1): 77-82
    » Abstract » doi: 10.12816/0004774
    Cited : 4 times [Click to see citing articles]

  • Attitudes and Knowledge about Evidence-Based Practice among Saudi Postgraduate Nursing Students
    Bader A Alrasheadi
    Majmaah J Heal Sci. 2023; 11(1): 113-124
    » Abstract » doi: 10.5455/mjhs.2023.01.010
    Cited : 3 times [Click to see citing articles]

  • Assessment of Pre and Post dental treatment Anxiety among Saudi Arabian population
    Abdulrahman Alatram
    Majmaah J Heal Sci. 2014; 2(1): 21-25
    » Abstract » doi: 10.12816/0004780
    Cited : 3 times [Click to see citing articles]

  • Knowledge, Perceptions, and Practice of Artificial Intelligence among Medical Students and Doctors at King Faisal University, Saudi Arabia
    Hamed Abdullah Alwadaani
    Majmaah J Heal Sci. 2024; 12(1): 142-157
    » Abstract » doi: 10.5455/mjhs.2024.01.013
    Cited : 2 times [Click to see citing articles]

  • Public Knowledge About Hijamah, Attitudes, Beliefs and Impact on Health-Related Quality of Life in Riyadh, Saudi Arabia
    Amjad Olayan Alharbi, Mohammed AlDosari, Haifa Bin Dokhi, Shaddin Alaskar, Yusra Sajid Chachar
    Majmaah J Heal Sci. 2023; 11(1): 16-28
    » Abstract » doi: 10.5455/mjhs.2023.01.003
    Cited : 2 times [Click to see citing articles]

  • Influence of Perceived Academic related Stress on Academic Performance of Medical Students - A Cross Sectional Study
    Sulaiman Almutairi
    Majmaah J Heal Sci. 2024; 12(3): 15-25
    » Abstract » doi: 10.5455/mjhs.2024.03.003
    Cited : 2 times [Click to see citing articles]

  • Social Media Effects on the Academic Performance of Undergraduate Medical Students in KSA
    Marwa Ahmed El Naggar, Abdullah N. Alrasheedi, Reema Faisal Almutairi, Lora Btail Alrwaily, Njood khalifa Alruwaili, Ghida Abdullah Alruwaili, Wogood Ghazi Alruwaili, Razan Mufreh Al-Daghmani
    Majmaah J Heal Sci. 2024; 12(1): 41-55
    » Abstract » doi: 10.5455/mjhs.2024.01.005
    Cited : 2 times [Click to see citing articles]

  • Inverse correlation of Interferon-gamma and CD8+ T Lymphocytes in Tuberculosis Patients
    Nadeem Afzal, Khursheed Javaid, Shahid Hussain, Saleem-uz-Zaman Adahmi, Waqas Sami, Ihtzaz Ahmed Malik
    Majmaah J Heal Sci. 2014; 2(1): 15-20
    » Abstract » doi: 10.12816/0004779
    Cited : 2 times [Click to see citing articles]

  • Medical Hypnosis – A Poorly Understood Therapeutic Modality
    Riaz Qureshi
    Majmaah J Heal Sci. 2013; 1(1): 1-4
    » Abstract » doi: 10.12816/0004764
    Cited : 1 time [Click to see citing article]

  • Does the Saudi Population Have Awareness and Perception Regarding New Treatment Options Other than Medications For Migraine?
    AbdulMajeed AlHadlaq, Omar Alamri, Jalwi Lazher, Faisal Obeid
    Majmaah J Heal Sci. 2023; 11(2): 80-90
    » Abstract » doi: 10.5455/mjhs.2023.02.008
    Cited : 1 time [Click to see citing article]

  • Prevalence and Factors Related to Anxiety and Depression among Type 2 Diabetic Patients in Riyadh
    Alanoud Suliman Alshabanat, Mohammad AlShammri, Amani Saleh Aldakheelallah, Majdi shadi salahie, Renad Faisal Althobaiti, Salma Mannaa Alanazi, Turki Melfi Alharbi
    Majmaah J Heal Sci. 2023; 11(2): 27-39
    » Abstract » doi: 10.5455/mjhs.2023.02.004
    Cited : 1 time [Click to see citing article]

    •

    About Majmaah Journal of Health Sciences

    Majmaah Journal of Health Sciences Majmaah Journal of Health Sciences is the official journal published by Majmaah University which is committed at bei ... Read more.



    For best results, please use Internet Explorer or Google Chrome.

    Contact Information

    Center for Publishing and Translation, Majmaah University, Building No 7055, Unit No:2, Al Majma'ah, Zip code: 15341, Additional No.: 4122,  Kingdom of Saudi Arabia, Email: mjhs@mu.edu.sa
    POLICIES & JOURNAL LINKS
    Author Login
    Reviewer Login
    Author LoginReviewer LoginAbout PublisherEditorial PoliciesEditorial Review PolicyPeer Review PolicyEditorial & Peer Review ProcessPublication Ethics and Publication Malpractice StatementConflict of Interest PolicyPlagiarism PolicyProtection of Research Participants (Statement On Human And Animal Rights)Privacy PolicyCorrections, Retractions & Expressions of ConcernSelf-Archiving PoliciesDigital Archiving & Preservation PoliciesStatement of Informed ConsentAdvertising PolicyTerms of UseLicense InformationCopyright Information