1 | Weak | 11 years | H | H | H | Not done | |
2 | Weak | 11 years | L | L | | No sample | |
3 | Weak | 2 months | N | N | N | Not done | |
4 | Weak | 3 months | N | N | N | Not done | |
5 | Weak | 3 years | N | H | | Not done | |
6 | Weak | 15 years | L | L | | None found | |
7 | Weak | 11 years | L | L | L | None found | |
8 | Weak | 13 years | L | L | L | Not done | |
9 | Weak | 18 years | N | N | N | Not done | |
10 | Weak | 45 years | N | H | R | Not done | |
11 | Weak | 5 months | N | N | M | None found | |
12 | Weak | 1 years | | | | None found | |
13 | Weak | 1 years | | | L | Not done | |
14 | Weak | 32 years | N | L | H | No sample | |
15 | Weak | 1 month | | | | None found | |
16 | Weak | 3 months | | | | None found | |
17 | Absent | 9 years | L | L | L | W140G (c.418t→g) Exon 5 | Mutation previously described15 |
| | | | | | AC: 4M0002313 C007014 | Disrupts conserved a.a. in TNF homology domain |
18 | Absent | 18 years | H | L | L | c.444-448gagca→c Exon 5 | Patient previously described16 |
| | | | | | AC: 4M0003613 C002914 | Disrupts reading frame |
19 | Absent | 13 years | L | L | R | G38R(c.112g→c) Exon 1 | Patient previously described16 |
| | | | | | AC: 4M00018 & 4M0001913 C002814 | Disrupts transmembrane domain |
20 | Absent | 3 months | H | H | N | No sample | |
21 | Absent | 1 years | N | L | L | c.302-303insA Exon 3 | Reading frame shift |
22 | Absent | 4 months | H | L | L | IVS3+1g→t | May affect splicing |
23 | Absent | 15 years | N | L | R | IVS3-915a→t | May affect splicing |
24 | Absent | 3 years | L | L | L | c.158-161delTAGA Exon 2 | Mutation previously described14 |
25 | Absent | 20 years | H | L | R | c.158-161 delTAGA Exon 2 | Mutation previously described14 |
26 | Absent | 29 years | | | | c.539delA Exon 5 | Reading frame shift |
27 | Absent | 29 years | H | L | L | c.508-516delTATATCTAT Exon 5 | 3 a.a. deletion from TNF homology domain |
28 | Absent | 3 years | N | L | L | None found | |
29 | Absent | 1 years | | | | c.521-522delAA Exon 5 | Reading frame shift |
30 | Absent | 2 months | N | L | M | Q174R (c.521a→g) Exon 5 | Relative previously described.16 Arisen de novo |
| | | | | | AC: 4M0002513 C003814* | Great grandmother did not carry the mutation |
31 | Absent | 11 years | H | L | | T254M (c.761c→t) Exon 5 | Mutation previously described16 |
| | | | | | AC: 4M00021 & 4M0002213 | Not seen in 100 normal chromosomes |
32 | Absent | 2 months | | | | c.242-243insT Exon 2 | Relative previously described16 |
| | | | | | AC: 4M0004713 C000814 | |
33 | Absent | 10 years | H | L | | del ex 5 Exon 5 | Mutation previously described16 |
| | | | | | AC: 4M0003513 | |
34 | Absent | 16 years | L | L | R | G257S (c. 769g→a) Exon 5 | Patient previously described14,16 |
| | | | | | AC: 4M0002013 C003014 | Disrupts conserved a.a. in TNF homology domain |
35 | Absent | 29 years | | | | T254M (c.761c→t) Exon 5 | Mutation previously described14 |
| | | | | | | Not found in 100 normal X chromosomes |
36 | Absent | 4 months | N | L | L | c.511-512delAT Exon 5 | Reading frame shift |
37 | Absent | 13 years | H | L | | L155P (c.464t→c) Exon 5 | Mutation previously described14 |
| | | | | | | Not found in 100 normal X chromosomes |
3 | Present | 4 months | N | N | M | | |
38 | Present | 7 years | L | L | L | | |
39 | Present | 8 years | L | L | N | | |
40 | Present | 6 years | L | L | L | | |
41 | Present | 5 years | L | L | L | | |
42 | Present | 11 years | N | N | N | | |
43 | Present | 49 years | H | N | N | | |
44 | Present | 20 years | L | L | L | | |
45 | Present | 4 years | N | N | N | | |
46 | Present | 4 years | N | N | N | | |
47 | Present | 9 months | N | L | N | | |
48 | Present | 10 years | N | L | L | | |
49 | Present | 4 months | H | H | N | | |
50 | Present | 19 years | N | N | L | | |
51 | Present | 1 years | | | | | |
52 | Present | 4 years | N | N | N | | |
53 | Present | 23 years | | | | | |
54 | Present | 14 years | N | L | N | | |
55 | Present | 7 years | | | | | |
56 | Present | 7 years | N | N | N | | |
57 | Present | 11 months | N | N | L | | |
58 | Present | 23 years | N | N | L | | |
59 | Present | 12 years | L | L | L | | |
60 | Present | 23 years | N | H | L | | |
61 | Present | 45 years | L | L | L | | |
62 | Present | 23 years | N | N | N | | |
63 | Present | 41 years | H | N | N | | |
64 | Present | 2 months | H | N | H | | |
65 | Present | 8 years | N | N | L | | |