Intracellular SH2D1A expression in patients with SH2D1A mutations
Patient . | Age . | Clinical presentation . | CD8+ T cells, %* . | CD56+ T cells, %† . | NK cells, %‡ . | Nucleotide change . | Predicted effect . |
|---|---|---|---|---|---|---|---|
| P1 | 5 m | Family history of XLP in 3 generations | 1.6 | 3.2 | 1.5 | 138(-2)a > c | Preventing normal splicing of exon 2 |
| P2 | 13 y | Recurrent B cell lymphoma | 5.2 | 3.7 | 6.2 | 102C > A | Ser34Arg |
| P3 | 12 y | Hypogamma-globulinemia; brother with recurrent B-cell lymphoma | 1.3 | N/A | 7.3 | 138(-2)a > g | Preventing normal splicing of exon 2 |
| P4 | 23 y | Arthritis, history of near-fatal EBV infection | 26.7 | 1.4 | 2.8 | 201(+3)a > g | Preventing normal splicing of exon 2 |
Patient . | Age . | Clinical presentation . | CD8+ T cells, %* . | CD56+ T cells, %† . | NK cells, %‡ . | Nucleotide change . | Predicted effect . |
|---|---|---|---|---|---|---|---|
| P1 | 5 m | Family history of XLP in 3 generations | 1.6 | 3.2 | 1.5 | 138(-2)a > c | Preventing normal splicing of exon 2 |
| P2 | 13 y | Recurrent B cell lymphoma | 5.2 | 3.7 | 6.2 | 102C > A | Ser34Arg |
| P3 | 12 y | Hypogamma-globulinemia; brother with recurrent B-cell lymphoma | 1.3 | N/A | 7.3 | 138(-2)a > g | Preventing normal splicing of exon 2 |
| P4 | 23 y | Arthritis, history of near-fatal EBV infection | 26.7 | 1.4 | 2.8 | 201(+3)a > g | Preventing normal splicing of exon 2 |