Background V (D) J recombination ensures the diversity of the adaptive immune system.
Although its complete defect causes severe combined immunodeficiency (ie, T− B− severe
combined immunodeficiency), its suboptimal activity is associated with a broad spectrum of
immune manifestations, such as late-onset combined immunodeficiency and autoimmunity.
The earliest molecular diagnosis of these patients is required to adopt the best therapy
strategy, particularly when it involves a myeloablative conditioning regimen for …