Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature

Table 1 Cases of familial hemophagocytic lymphohistiocytosis reported in Chinese population

Case	Age of onset	Gender	Variant	Amino acid change(s)	Type of mutation	Ref.
1	6 yr	M	c.C1066T	p.R356W	Missense mutation	[10]
2	19 yr	M	c.C1349T	p.T450M	Missense mutation
3	27 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.G503A	p.S168N	Missense mutation
4	11 yr	M	c.T172C	p.S58P	Missense mutation
			c.1083_1094del	p.361_365del	Frameshift mutation
5	9 yr	F	c.G218A	p.C73Y	Missense mutation
			c.G394A	p.G132R	Missense mutation
6	17 yr	F	c.A380G	p.N127S	Missense mutation
			c.853_855delAAG	p.K285del	Frameshift mutation
7	20 yr	F	c.G503A	p.S168N	Missense mutation
			c.C1349T	p.T450M	Missense mutation
8	1 yr	F	c.C673T	p.R225W	Missense mutation
			c.T1535G	p.L512R	Missense mutation
9	2 mo	M	c.853_855delAAG	p.K285del	Frameshift mutation
			c.C1349T	p.T450M	Missense mutation
10	6 yr	F	c.853_855delAAG	p.K285del	Frameshift mutation
			c.C1349T	p.T450M	Missense mutation
11	3 yr	M	c.G984A	p.W328X	Nonsense mutation
			c.C1349T	p.T450M	Missense mutation
12	2 yr	F	c.1090_1091delCT	p.T364fsX93	Frameshift mutation
			c.C1349T	p.T450M	Missense mutation
13	1 yr	F	c.C10T	p.R4C	Missense mutation
14	10 yr 9 mo	M	c.65delC	p.P22RfsX29	Frameshift mutation
15	14 yr	M	c.G503A	p.S168N	Missense mutation
16	13 yr	M	c.G503A	p.S168N	Missense mutation
17	3 yr	M	c.G503A	p.S168N	Missense mutation
18	24 yr	M	c.C1005A	p.S335R	Missense mutation
19	26 yr	M	c.1419delC	p.T474QfsX5	Frameshift mutation
20	1 yr 6 mo	F	c.1083_1094del	p.361_365del	Frameshift mutation	[11]
			c.634T>C	p.Y212H	Missense mutation
21	4 yr 11 mo	F	c.1349C>T	p.T450M	Missense mutation
			c.853_855delAAG	p.K285del	Frameshift mutation
22	9 yr	F	c.1349C>T	p.T450M	Missense mutation
			c.1306G>T	p.D436Y	Missense mutation
23	1 yr 9 mo	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.148G>A	p.V50M	Missense mutation
24	7 yr	M	c.C10T	p.R4C	Missense mutation	[12]
			p.R33H	p.R33H	Missense mutation
25	6 yr	M	p.V50L	p.V50L	Missense mutation
26	4 yr	M	C1465A>T	p.R489W	Missense mutation
27	25 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation	[13]
			c.916G>A	p.G306S	Missense mutation
28	13 yr	F	c.503G>A	p.S168N	Missense mutation	[14]
			c.1177T>C	p.C393R	Missense mutation
29	8 yr	M	c.1349C>T	p.T450M	Missense mutation	[3]
			c.445G>A	p.G149S	Missense mutation
30	48 yr	M	c.916G>A	p.G306S	Missense mutation	[15]
			c.822C>T	p.A274=	Synomynous mutation
			c.900C>T	p.H300=	Synomynous mutation
31	2 yr 2 mo	F	c.10 C>T	p.R4C	Missense mutation	[16]
32	8 yr 5 mo		c.1349CT	p.T450M	Missense mutation	[17]
			c.1273dupT	p.W425fsX457	Frameshift mutation
33	5 yr 2 mo	M	c.305C>T	p.C102F	Missense mutation	[18]
34	14 yr 5 mo	F	c.503G>A	p.S168N	Missense mutation
35	5 yr 2 mo	F	c.503G>A	p.S168N	Missense mutation
			c.1349C>T	p.T450M	Missense mutation
36	45 D	F	c.65delC	p.P22Rfs*29	Frameshift mutation	[19]
			c.65delC	p.P22Rfs*29	Frameshift mutation
37	13 yr 8 mo	F	c.1349C>T	p.T450M	Missense mutation	[20]
			c.1450G>A	c.1450G>A	Missense mutation
38	2 mo	M	c.1349C>T	p.T450M	Missense mutation
			c.853_855delAAG	p.K285del	Frameshift mutation
39	4 yr	F	c.133G>A	c.133G>A	Missense mutation
			c.116C>A	c.116C>A	Missense mutation
40	4 yr 2 mo	F	c.1349C>T	p.T450M	Missense mutation
			c.65delC	c.65delC	Frameshift mutation
41	3 yr	F	c.1349G>A	c.1349G>A	Missense mutation
			c.218C>T	c.218C>T	Missense mutation
42	5 mo	F	c.673C>T	c.673C>T	Missense mutation
			c.1535T>G	c.1535T>G	Missense mutation
43	4 yr 11 mo	F	c.1349C>T	p.T450M	Missense mutation
			c.853_855delAAG	p.K285del	Frameshift mutation
44	10 mo	F	c.1349C>T	p.T450M	Missense mutation
			c.1090_1091delCT	p.T364fsX93	Frameshift mutation
45	11 yr 3 mo	M	c.1349C>T	p.T450M	Missense mutation
			c.503G>A	p.S168N	Missense mutation
46	6 yr	F	c.133G>A	c.133G>A	Missense mutation
			c.394G>A	c.394G>A	Missense mutation
47	8 mo	M	c.562C>G	p.P188A	Missense mutation	[21]
48	1 yr	M	c.98G>A	p.R33H	Missense mutation
49	1 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.1349C>T	p.T450M	Missense mutation
50	1 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.1349C>T	p.T450M	Missense mutation
51	2 yr	M	c.1349C>T	p.T450M	Missense mutation
			c.1103T>A	p.L368Q	Missense mutation
52	2 yr	M	c.1349C>T	p.T450M	Missense mutation
			c.1491T>A	p.C497X	Nonsense mutation
53	3 yr	M	c.1349C>T	p.T450M	Missense mutation
54	3 yr	M	c.634T>C	p.Y212H	Missense mutation
			c.65delC	p.P22RfsX29	Frameshift mutation
55	3 yr	F	c.673C>T	p.R225W	Missense mutation
			c.1304C>T	p.T435M	Missense mutation
56	4 yr	M	c.742G>A	p.G248R	Missense mutation
57	4 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.148G>A	p.V50M	Missense mutation
58	5 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.1349C>T	p.T450M	Missense mutation
59	6 yr	M	c.394G>A	p.G132R	Missense mutation
60	6 yr	F	c.445G>A	p.G149S	Missense mutation
			c.1349C>T	p.T450M	Missense mutation
61	9 yr	M	c.1349C>T	p.T450M	Missense mutation
62	10 yr 9 mo	F	c.503G>A	p.S168N	Missense mutation
			c.215G>A	p.T72N	Missense mutation
63	19 yr	M	c.1066C>T	p.R356W	Missense mutation
64	56 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.503G>A	p.S168N	Missense mutation
65	18 yr	F	c.1168C>T	p.R390X	Nonsense mutation	[22]
			c.1349C>T	p.T450M	Missense mutation
66	19 yr	M	c.1349C>T	p.T450M	Missense mutation
67	18 yr	M	c.172T>C	p.S58P	Missense mutation
			c.1083_1094del	p.361_365del	Frameshift mutation
68	54 yr	F	c.65delC	p.P22RfsX29	Frameshift mutation
			c.674G>A	p.R225Q	Missense mutation
69	27 yr	M	c.503G>A	p.S168N	Missense mutation
			c.65delC	p.P22RfsX29	Frameshift mutation
70	18 yr	F	c.1090_109ldel	p.T364fsX93	Frameshift mutation
			c.1349C>T	p.T450M	Missense mutation
71	18 yr	M	c.65delC	p.P22RfsX29	Frameshift mutation
			c.1349C>T	p.T450M	Missense mutation
72	18 yr	F	c.380A>G	p.N127S	Missense mutation
			c.853_855delAAG	p.K285del	Frameshift mutation
73	18 yr	F	c.46C>T	p.P16S	Missense mutation
			c.1066C>T	p.R356W	Missense mutation
74	15 yr	M	c.1349C>T	p.T450M	Missense mutation	[23]
			c.282C>A	p.N94K	Missense mutation
75	12 yr	M	c.1349C>T	p.T450M	Missense mutation
			c.282C>A	p.T450M	Missense mutation