Table 2. The clinical features of the SCID patients and their specific RAG2 genetic defect.
Patient | Age at diagnosis months | Sex | Family history | Clinical presentation | RAG2 Genetic defect |
P1 | 3 | M | + | SCID-Omenn | G35V |
P2 | 3 | M | + | SCID | G35V |
P3 | 6 | M | − | SCID | T215I |
P4 | 3 | F | + | SCID | G35V |
P5 | 1 | M | + | SCID | G35V |
P6 | 1 | F | + | SCID | T215I |
P7 | 4 | F | + | SCID-Omenn | T215I |
P8 | 3 | M | + | SCID-Omenn | G35V |
P9 | 3 | M | − | SCID-Omenn | G95V+E480X |
P10 | 3 | M | − | SCID –100% maternal engraftment | G156V |
SCID – severe combined immunodeficiency.