Prenatal Test for X-Linked Severe Combined Immunodeficiency by Analysis of Maternal X-Chromosome Inactivation and Linkage Analysis

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Abstract
SEVERE combined immunodeficiency (SCID) is a syndrome that includes a spectrum of X-linked and autosomal genetic defects affecting both cellular and humoral immunity.1 Affected persons have severe and persistent infections in infancy, leading to failure to thrive and early death. Patients with SCID have decreased numbers of T cells, an absence of proliferative responses to mitogens, and hypogammaglobulinemia, although B cells may be present in normal or increased numbers. The causes of a small proportion of cases of autosomally inherited SCID have been defined and have included deficiencies of the enzymes adenosine deaminase and purine nucleoside phosphorylase2 and of a DNA-binding protein required for the expression of histocompatibility genes.3 Although enzyme replacement4 and ultimately gene therapy may become the treatments of choice for SCID of known cause, bone marrow transplantation has been the only available treatment in the majority of cases to date.