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Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined
1Division of Immunology/Allergy and the Infection, Immunity, Injury and Repair Program, The Research Institute and The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
The Journal of Pediatrics
|October 18, 2005
Abstract:
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.
