Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

Severe combined immunodeficiency (SCID), a rare genetic disorder of both B and T lymphocyte development, causes early death if not successfully treated by bone marrow trans-plantation (1). An excess of affected males and many sporadic cases indicate the predominance of the X-linked form (SCIDX1) and a substantial rate of new X-linked mutations (2). The SCIDX1 disease gene in Xql3.1, IL2RG, encodes the IL-2 receptor y chain or yc (3,4), a member of the cytokine receptor superfamily found in receptor complexes for multipl