Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

Open Access
Publisher Website
Google Scholar
Abstract
X-linked severe combined immunodeficiency is a recessive hereditary disease characterized by severe and persistent infections starting in the first months of life and associated with diarrhea and failure to thrive.1 Affected infants almost invariably present with an absence of T cells and natural killer cells, normal or elevated B-cell counts, and hypogammaglobulinemia. This disease is rapidly fatal without bone marrow transplantation.2