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 × 10^9	5–10 × 10^9
Hgb	12.5	11–13 g/l
Platelet	67 × 10^9	140–400 × 10^9
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