Table 1.

Clinical features of patients with CN with identified genetic defects diagnosed at Children’s Hospital of Fudan University

No.	Gene	Gender	Age of onset (mo)	Age of diagnosis (mo)	Infected tissues/organs
1	ELANE	F	120	152	1, 7, 11
2	ELANE	M	2	3	1, 2, 3, 4, 5, 7, 8
3	ELANE	M	3	21	1, 3, 4, 7, 11
4	ELANE	M	0.4	13	1, 2, 7
5	ELANE(CyN)	F	9	58	1, 2, 4, 6
6	ELANE	F	16	17	1, 11
7	ELANE	F	2	33	1, 3, 5, 7, 8, 13
8	ELANE	F	0.2	17	2, 7, 9, 11
9	ELANE	M	5	26	1, 7
10	ELANE	F	2	3	1, 2, 3, 6, 7, 10, 11
11	ELANE(CyN)	F	24	72	2, 8
12	ELANE	F	0.2	15	1, 2, 3, 5, 7, 8, 10
13	ELANE	M	0.1	18	1, 2, 10
14	ELANE	F	1	162	1, 2, 4, 6, 13
15	ELANE	M	2	18	1, 2, 7
16	ELANE(CyN)	F	24	120	2, 6, 7
17	ELANE	M	1	36	1, 3, 7, 11
18	ELANE	M	0.8	6	1, 4, 5, 7
19	ELANE	F	120	152	1, 2, 6, 7
20	ELANE	M	2	3	2, 10
21	ELANE(CyN)	F	3	21	3, 6
22	ELANE	M	0.4	13	1, 7, 9, 10, 12
23	ELANE	F	9	58	1, 2
24	ELANE	F	16	17	1, 2, 4, 7
25	ELANE	F	2	33	1, 2, 4, 7, 8, 9, 11, 12
26	ELANE	M	0.2	17	1
27	ELANE	F	5	26	1, 2, 3, 5, 8, 11
28	ELANE	M	2	3	1, 2, 7
29	ELANE	M	24	72	1, 2, 5, 7
30	ELANE	M	0.2	15	1, 5, 7, 8, 12
31	ELANE	M	0.1	18	1, 3, 7
32	ELANE	M	1	162	1, 2, 3, 5, 7
33	ELANE	F	2	18	1, 2
34	ELANE	F	24	120	1
35	ELANE	M	1	36	1, 2, 7
36	ELANE	M	0.8	6	1, 8, 9, 13
37	HAX1	M	3	110	1, 7, 10
38	HAX1	F	24	69	2, 7
39	HAX1	M	25	34	1, 2, 3, 7
40	HAX1	M	1	8	1, 2, 3, 5, 6, 11
41	CXCR4	M	24	24	12
42	CXCR4	M	2	17	1, 5, 8
43	CXCR4	M	0.7	13	1, 5
44	CXCR4	F	58	62	1, 5
45	CXCR4	F	1	24	1
46	SBDS	F	120	152	1, 7, 11
47	SBDS	M	2	3	1, 8
48	SBDS	F	3	21	1, 8
49	SBDS	F	0.4	13	1, 8
50	SBDS	F	9	58	1, 4
51	SBDS	F	16	17	1, 8
52	SBDS	F	2	33	1, 8, 9
53	SBDS	M	0.2	17	1, 8, 9, 13
54	WAS	M	5	26	1
55	G6PC3	F	2	3	1, 2, 7, 8
56	SPR54	M	24	72	1, 2, 4, 11

P19 and P20, as well as P28 and P29, are from 2 separate twin families.

Infected tissues/organs: 1, pulmonary; 2, oral; 3, gums; 4, lymph nodes; 5, middle ear; 6, tonsils; 7, skin; 8, gastrointestinal tract; 9, blood; 10, urinary tract; 11, soft tissues; 12, abdominal cavity; 13, brain/nerves.

F, female. M, male.