|
Clinical data and Btk mutations of 16 patients reported in the world literature with atypical XLA. |
|||||||
| Serum Ig level (mg/dL)* |
Btk Mutation |
||||||
|
|
|||||||
| Patient no. |
Age (yrs)ϕ |
IgG |
IgA |
IgM |
Nucleotide Change |
Domain |
Reference |
|
|
|||||||
| P1 |
51 |
401 |
<7 |
15 |
567C>A |
TH |
12 |
| P2 |
26 |
169 |
8 |
7 |
UD |
UD |
|
| P3 |
25 |
773 |
UD |
1 |
UD |
UD |
4 |
| P4 |
34 |
420 |
UD |
UD |
UD |
UD |
|
| P5 |
27 |
635 |
<5 |
11 |
Glu605stop |
SH1 |
9 |
| P6 |
40 |
<20 |
<20 |
22 |
G>Aψ |
NA |
5 |
| P7 |
39 |
220 |
UD |
UD |
W563L |
SH1 |
|
| P8 |
60 |
429 |
7 |
14 |
994C>T |
SH2 |
6 |
| P9 |
27 |
132 |
7 |
17 |
230C>T |
PH |
10 |
| P10 |
21 |
35 |
8 |
29 |
1630A>G |
SH1 |
8 |
| P11 |
32 |
462 |
<8 |
<7 |
227T>C |
PH |
|
| P12 |
32 |
702 |
185 |
<25 |
1706G>A |
SH1 |
|
| P13 |
28 |
454 |
95 |
38 |
UD |
UD |
11 |
| P14 |
27 |
346 |
16 |
8 |
1705C>T |
SH1 |
|
| P15 |
24 |
NA |
0 |
1 |
1942-1943del AG |
SH1 |
|
| P16 |
31 |
527 |
8 |
30 |
UD |
UD |
|
|
UD, Undetermined; NA, Not applicable * Serum immunoglobulins reported at the age of diagnosis ϕ Age at diagnosis ψ Splice site mutation at the 3' end of intron 13: IVS 13 -1 G>A | |||||||
Sigmon et al. Clinical and Molecular Allergy 2008 6:5 doi:10.1186/1476-7961-6-5 |
|||||||