Table 1.

Clinical characteristics of patients and controls

				Serum-immunoglobulinsa			Lymphocyte distributionb			Clinical featuresc		T cell proliferationd
	Age (years)	Age at onset	Gender	IgM	IgG	IgA	CD4+ (106/mm3)	CD8+ (106/mm3)	CD19+ (106/mm3)	Splenomegaly	Bronchiectasis	Absolute (104 cpm)	Ratio
CVID patients
×1	62	10	Male	<0·1	2·3	<0·2	1579	3979	21	Yes	Yes	31·0	0·38
×2	47	41	Male	<0·1	4·3	<0·2	896	2306	911	No	No	36·0	0·63
×3	38	23	Female	<0·1	4·2	<0·2	726	1219	30	No	Yes	25·0	0·47
×4	51	23	Female	<0·1	<0·2	<0·2	387	640	421	No	No	25·0	0·48
×5	57	52	Female	<0·1	1·3	<0·2	549	1068	162	Yes	No	11·5	0·37
×6	46	20	Male	<0·1	2·7	<0·2	1912	1237	162	Yes	Yes	7·0	0·13
7	30	10	Male	<0·1	2·1	<0·2	915	595	336	No	No	56·7	0·90
8	26	6	Female	<0·1	0·2	<0·2	368	748	324	No	No	51·5	0·78
9	64	52	Female	0·4	3·2	0·4	385	520	185	No	Yes	85·0	1·39
10	73	50	Male	0·1	4·6	<0·2	416	531	249	No	Yes	40·3	0·62
11	43	40	Female	<0·1	1·0	<0·2	1224	636	238	No	Yes	95·0	1·30
12	57	50	Male	<0·1	3·6	<0·2	1107	600	199	No	No	77·0	0·80
13	38	3	Male	<0·1	5·2	<0·2	632	199	124	Yes	Yes	68·0	0·94
14	31	12	Female	<0·1	4·5	<0·2	176	247	1	Yes	Yes	21·0	0·69
15e	44	32	Male	<0·1	3·1	<0·2	284	81	13	Yes	Yes	24·3	0·76
16	52	45	Male	0·3	4·3	1·6	922	2224	527	No	No	62·0	0·63
17	58	31	Female	<0·1	2·0	<0·2	731	295	30	Yes	Yes	16·0	0·16
18	57	50	Female	1·3	4·0	0·5	561	608	188	No	No	60·0	0·62
19	51	4	Male	<0·1	4·8	<0·2	570	2297	153	No	No	73·0	1·20
20	60	44	Male	0·2	1·2	0·3	289	1486	47	No	No	48·0	0·65
21	26	19	Female	1·4	4·7	<0·2	1060	512	209	Yes	No	40·0	0·67
22	49	11	Female	0·1	1·2	0·1	158	255	38	Yes	Yes	27·9	0·82
23	31	13	Male	<0·1	4·5	<0·2	1950	2396	442	Yes	Yes	17·0	0·16
XLA
x	37	<2	Male	<0·1	2·1	<0·2	1726	857	16	No	Yes	94·2	0·80
x	28	<2	Male	<0·1	3·2	<0·2	1364	506	3	No	No	43·2	0·82
x	37	<2	Male	<0·1	2·7	<0·2	1559	1301	12	No	Yes	36·6	1·03
x	19	<2	Male	<0·1	1·5	<0·2	1492	1104	3	No	Yes	113·6	1·12
x	18	<2	Male	<0·1	2·5	<0·2	1037	1337	37	No	No	125·1	2·59
Healthy controls
x	62		Male				939	867	372	No	No	81·6	1
x	48		Male				957	745	234	No	No	57·1	1
x	38		Female				2064	1703	218	No	No	53·2	1
x	46		Female				1448	686	322	No	No	52·1	1
x	43		Female				1204	429	193	No	No	31·0	1
x	55		Male				525	173	129	No	No	53·8	1

^aSerum immunoglobulin levels at time of diagnosis (g/l). Reference values: IgM > 0·5 g/l; IgG > 6·8 g/l; IgA > 0·8 g/l.

^bAbsolute numbers of lymphocytes in peripheral blood.

^cConfirmed by ultrasound, computer tomography (CT) or high-resolution CT (HR-CT).

^dIn vitro T cell proliferation as assessed by thymidine incorporation, data presented as absolute counts per minute (cpm) or relative to matched healthy control (see Methods).

^ePatient no. 15 had histologically confirmed granulomas. x: Included in microarray analysis. CVID; common variable immunodeficiency, XLA; X-linked agammaglobulinaemia.