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    Severe Combined Immunodeficiency Disorder

    Severe Combined Immunodeficiency (SCID) includes a group of rare but serious, and potentially fatal, inherited immune disorders in which T lymphocytes fail to develop and B lymphocytes are either absent or compromised. Impairment of both B and T cells leads to the term “combined.” Untreated patients develop life-threatening, infections due to bacteria, viruses and fungi. The screening test for T cell receptor excision circles (TRECs), a byproduct of normal T cell development, identifies SCID as well as certain related conditions with low T cells. For example DiGeorge Syndrome with impaired thymus development may cause low T cells and low TRECs.  SCID is an autosomal recessive disorder, but can also be inherited as an X-linked disorder, affecting males whose mothers are a carrier for SCID. 
    Incidence:  1 out of every 50,000 to 100,000 births; however, an exact rate of occurrence cannot be determined until more states are screening newborns for the disease.
    Diagnosis: Diagnosis is made by obtaining a CBC with flow cytometry.  This testing should be coordinated with Immunology to improve accuracy of ordering and analysis of results.  Live vaccines should not be given to a patient with a potential SCID diagnosis until results of follow-up testing are known and are WNL.  Therefore, Rotovirus should not be administered in a patient who is currently undergoing a work-up for potential SCID.
    Treatment:  Bone marrow transplantation provides patients with a functioning immune system that is capable of protecting them from infections. Transplants from sibling matched donors continue to produce the best outcomes, when available. This is still a developing field and as new methods are tested, especially in the newborn population, increasingly better outcomes are being seen even in those without a matched sibling.
    False Positives:  False positive results are common in premature infants and infants with poor immune systems secondary to illness or other conditions.