Table 2.

Immunological findings in patients with NBAS deficiency described in the current study.

Parameter	Patient 1	Patient 2	Patient 3	Reference range
	Lymphocyte subset analysis
Lymphocyte count, × 109/L	5.38	2.71	1.17	2.3–5.4
T cells
CD3+, × 109/L	5.2	2.43	1.05	1.4–3.7
CD3+ CD4+, × 109/L	0.9	1.43	0.17	0.7–2.2
CD3+ CD8+, × 109/L	4.18	0.61	0.87	0.49–1.3
CD4+CD45RA+ naïve T cells	0.56	1.04	0.05	0.43–1.50
CD4+CD45RO+ memory T cells	0.38	0.25	0.05	0.22–0.66
CD8+CD45RA+ naïve T cells	2.23	0.44	0.02	0.38–1.10
CD8+CD45RO+ memory T cells	1.45	0.06	0.001	0.09–0.44
B cells
CD19+, × 109/L	0.11	0.24	0.07	0.4–1.7
CD19+CD27-IgD+ naive, %	1.58	6.5	23.6	54–88
CD19+CD27-IgD+ naive, × 109/L	0.08	0.17	0.01	0.28–1.33
CD19+CD27+IgD+ pre-switch memory B cells, %	0.32	0.43	37.2	2.7–19.8
CD19+CD27+IgD+ pre-switch memory B cells, × 109/L	0.017	0.012	0.02	0.02–0.18
CD19+CD27+IgD- post-switch memory B cells, %	0.13	0.87	12.16	4.7–21.2
CD19+CD27+IgD- post-switch memory B cells, × 109/L	0.007	0.02	0.009	0.04–0.14
NK cells
CD3– CD16+CD56+, × 109/L	0.16	0.04	0.05	0.13–0.72
TREC/KREC
TREC, copy numbers per 105 leukocytes	910	3,500	44	470–4,100
KREC, copy numbers per 105 leukocytes	120	190	1	780–7,700
	Serum immunoglobulins*
IgG (g/L)	2.8	2.7	1.6	6.8–15.4
IgM (g/L)	1.2	0.5	0.13	0.8–1.6
IgA (g/L)	0.83	0.26	0.05	0.3-1.5

Reference range values (24, 25).

^*Igg serum concentration before IVIG substitution.