Table 1 Immunologic laboratory values at time of diagnosis of patients with TOP2B mutations^a

	Family 1		Family 2	Family 3
Age at presentation	7 years	35 years	6 years	5 years
General immune evaluation
Leukocytes (cells/μL)	5200	7600	7000	5900
	[4500–13500]	[4000–1000]	[5500–15,000]	[5500–15,000]
Absolute Lymphocyte count (cells/μL)	1900	2000	2240	3547
	[1500–6500]	[1200–3500]	[1500–7000]	[1500–7000]
CD3+ T cells (cells/μL)	1853	1764	2720	3422
	[1200–2700]	[1100–2500]	[1900–3000]	[1400–3700]
CD4+ T cells (cells/μL)	1122	1008	1728	1832
	[800–1500]	[700–1400]	[570–1200]	[700–2200]
CD8+ T cells (cells/μL)	774	726	800	1417
	[400–1200]	[400–1100]	[475–960]	[490–1300]
CD19+ B cells (cells/μL)	0	48	0	0
	[150–600]	[150–500]	[200–600]	[200–600]
CD16+ NK cells (cells/μL)	58	172	448	17
	[200–400]	[150–400]	[200–600]	[200–600]
CH50	n.d.	n.d.	90	>65
	[n.a.]	[n.a.]	[>80]	[>60]
B cell-specific immune evaluation
Total IgG (mg/dL)	232	631	73	242
	[610–1480]	[720–1460]	[400–1075]	[463–1236]
IgA (mg/dL)	<26	158	33	7
	[40–290]	[24–381]	[19–119]	[25–154]
IgM (mg/dL)	150	128	12	<6
	[380–1860]	[54–227]	[25–114]	[43–196]
IgE (mg/dL)	n.d.	n.d.	5	n.d.
	[n.a.]	[n.a.]	[0–450]	[n.a.]
tetanus titer^b (IU/mL)	deficient	n.d.	<0.04–> 0.11	0.1
	[>0.15]	[n.a.]	[>0.15]	[>0.15]
Diphtheria (IU/mL) titers	deficient	n.d.	undetectable	<0.1
	[>0.15]	[n.a.]	[>0.15]	[>0.15]
H. influenzae B titers (ng/mL)	deficient	n.d.	undetectable	<0.15
	[>0.15]	[n.a.]	[>100]	[>0.15]
Mitogen stimulation	normal	normal	normal	normal

^aNormal values for age, per reference lab, shown in square brackets. n.d. not done, n.a. not available
^bTiter values are expressed as expected postimmunization^9,10

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