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Testing Methodology and Clinical Advantages of a Newborn Screening Protocol for Severe Combined Immunodeficiency



Severe combined immunodeficiency (SCID) is a genetic disorder defined by a disruption in the development of functional T cells and B cells that circulate in the body (1). This immunodeficiency is the most severe form of primary immunodeficiencies, exposing its victims to extreme vulnerability to infectious diseases, resulting in the more common name “the bubble boy disease”. Due to the severity of this immunodeficiency disorder, an early diagnosis would be ideal in order to prevent infant fatally in SCID patients. Advanced screening protocols immediately after birth are crucial in providing prompt treatment to infants, determining their quality life and ultimately preventing death. This paper will discuss the etiology of SCID, the clinical presentation and diagnosis of SCID, and will proceed to highlight the advantages and disadvantages of a newborn screening protocol.


SCID, Newborn, Screening


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