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1/2. genetic testing and screening in pediatric populations.

    It is conceivable that in the near future a family could present themselves to their health care provider and request to be tested for diseases X, Y, and Z, equipped only with a web page listing of disease-causing genes. The testing of children suggests subtle and controversial inherent conflicts, however. Decisions about whether to provide genetic testing become increasingly murky for a health care professional as the requests advance from testing a child for carrier status for an autosomal recessive disorder, to testing a girl for a sex-linked mutation, to testing an asymptomatic child for a susceptibility to a particular disorder. Although no single case can exemplify every variable and circumstance confronting health care professionals today, this case-based discussion of x-linked severe combined immune deficiency can serve as a framework to examine some of the potential dilemmas surrounding the testing of children for genetic disorders.
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2/2. mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests.

    To study the correlation between genotype and phenotype in x-linked SCID, we have characterized the presentation of 2 unrelated patients. Both had infections suggestive of immunodeficiency, but their immune function and lymphoid tissues were normal. They were found to have an identical R222C mutation in the gammac gene.
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