Case Report
Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
Table 1
Investigations at 3 months of age.
| Investigation at age of 2-3 months | Result | Reference range |
| IgM | <0.25 g/l | 0.15–0.70 g/l | IgG | <2.0 g/l | 2.1–7.7 g/l | IgA | <0.06 g/l | 0.05–0.40 g/l | CD3 | 1.404 cells/Micro/L | 3.5–5 cells/Micro/L | CD4 | 0.744 cells/Micro/L | 2.8–3.9 cell/Micro/L | CD8 | 0.637 cells/Micro/L | 0.637 cells/Micro/L | CD19 | 0.581 cells/Micro/L | 0.581 cells/Micro/L | NK cells | 0.037 cells/Micro/L | 0.1–1.3 cell/Micro/L | CD4/CD8 | 1.168 cells/Micro/L | 0.9–3.6 cell/Micro/L | CMV quantitative | 166,250 | <490 cp/ml | WBC | 17.5 × 109 | 5–10 × 109 | Hgb | 12.5 | 11–13 g/l | Platelet | 67 × 109 | 140–400 × 109 | Hepatitis B s Ab | Negative | | Hepatitis C Ab | Negative | | Hepatitis A IgM | Negative | | HIV | Negative | | BAL | Negative | | Karyotyping | 46 + XY | |
| Liver enzymes | | | Albumin | 22 g/dl | | AST | 217 | 22–58 IU/l | ALT | 96 | 11–39 IU/l | Total bilirubin | 22 | 5–22 micromol/l | PT | 19.7 | Seconds | PTT | 46.9 | Seconds |
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