الفهرس 
Immunity and T-cell FunctionOnly 14 pages are availabe for public view
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Abstract
Introduction: The immune system is composed of a variety of different cell types and proteins. Each component performs a special task aimed at recognizing and/or reacting against foreign material. Primary immunodeficiency result from a deficiency or defect in T, lymphocyte, B, lymphocyte, NK cells, phagocytic Aims: Assessment of T-cell functions in patients with maple syrup urine disease in relation to clinical presentation, disease control and duration of the disease.
Methodology: This case-control study carried out at children’s Hospital, Ain –Shams University. Patients included (30) infants and children with maple syrup urine together with (30) children age and sex-matched investigated as a control group, their ages ranged between one month to 4 years, they were 17 male (56%) and 13 female (44%), during the period from 1st December 2013 to 1st July 2015.
Results: All the cases and controls were collected from the children’s hospital of Ain Shams university. Parents or legal guardians were interviewed to investigate relevant medical history. The interview covered the following aspects; frequency, duration and onset of severe infections, response to antimicrobials, family history of similar condition and/or previous siblings’ death. After that, clinical examination and laboratory investigations of participants to cover possible attributing variables; complete blood count with differential leucocytes.
Conclusion
A decrease in the total leucocytic count and absolute lymphocytes accompanied with a decrease in lymphocytes subsets (CD3) and T-cell activation marker (CD69 and CD69 after activation) in patients was MSUD suggesting that high levels of leucine, isoleucine, valine ratio seem to have a deleterious effect on T lymphocyte subsets and its activation process. This could be a contributing factor to the increased rate of infection seen in patients with MSUD.
Recommendations: Nationwide screening for MSUD and other IEM in all neonates for early diagnosis. All MSUD patients should undergo serial assessment of lymphocyte subsets by flow cytometry. Other studies to be done on a large sample of MSUD patients to confirm our findings and to assess the status of viral infection as CMV and HIV which lead to secondary immunodeficiency as well as genetic studies for primary combined T cell and B cell immunodeficiency.
Keywords: T-cell Function, Patients, Maple Syrup Urine Disease