E-ISSN 1658-8223 | ISSN 1658-645X
 

Case Report 


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. http://www.mjhs-mu.org/?mno=290215 [Access: June 30, 2021].


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 30, 2021]; 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
  • 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

  • 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

  • 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

  • Most Downloaded
  • The “Epidemiological Transmission” and “Double-Burden of Disease”: A Focus on Africa
    Asim Abdelmoneim Hussein
    Majmaah J Heal Sci. 2014; 2(2): 3-11
    » Abstract

  • 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

  • Relativity of Platelet Count with Automated Cell Counter & Manual Haemocytometer using Peripheral Blood Smear
    Purnendu Sinha, Moattar Raza Rizvi, Ranjay Kumar Choudhary
    Majmaah J Heal Sci. 2014; 2(1): 41-46
    » Abstract » doi: 10.12816/0004783

  • How Many Subjects Should be Studied: Sample Size Determination through Hypothesis Testing and Confidence Interval
    Waqas Sami, Mohammed O. Al-Rukban, Mohammed Almansour, Tayyaba Waqas, Kamran Afzal, Rehan Asad
    Majmaah J Heal Sci. 2013; 1(2): 43-48
    » Abstract

  • An Assessment of Nutrition Education in Primary Schools and its Effect on Students Dietary Behaviors and Body Mass Index in Saudi Arabia
    Ali S. R. Alsubaie
    Majmaah J Heal Sci. 2017; 5(2): 45-56
    » Abstract » doi: 10.5455/mjhs.2017.02.006

  • Most Cited Articles
  • Physical Therapy Management for Child with Generalized Joint Hypermobility
    Mohamed Sherif Sirajudeen
    Majmaah J Heal Sci. 2020; 8(1): 113-119
    » Abstract » doi: 10.5455/mjhs.2020.01.011
    Cited : 3 times [Click to see citing articles]

  • 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
    Cited : 2 times [Click to see citing articles]

  • Analysing Undergraduate Medical Curricula: Experience from a Saudi Medical College
    Ahmad Saleh Alamro
    Majmaah J Heal Sci. 2019; 7(3): 20-33
    » Abstract » doi: 10.5455/mjhs.2019.03.004
    Cited : 2 times [Click to see citing articles]

  • The Mighty Role Of Platelets In Immunity, Inflammation, Cancer And Angiogenesis
    Hassan Hamali
    Majmaah J Heal Sci. 2020; 8(1): 65-81
    » Abstract » doi: 10.5455/mjhs.2020.01.008
    Cited : 1 time [Click to see citing article]

  • Prevalence and risk factors of diabetic neuropathy in Qassim, Saudi Arabia
    Amal A Almohisen, Lama M Almuhaysen, Khawlah K Alhatlany, Reham H Alghalth, Ashwaq M Almutairi, Fatmah A Almarzogy, Haneen A Alghasham, Ghaida M Almohaysen
    Majmaah J Heal Sci. 2020; 8(2): 23-31
    » Abstract » doi: 10.5455/mjhs.2020.02.004
    Cited : 1 time [Click to see citing article]