Table 1 Summary of previously reported NFKB1variants.
From: A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency
cDNA | Protein change | Familial/Sporadic | Age at diagnosis | IgG(g/L) | Reference | |
|---|---|---|---|---|---|---|
This case | c.136 C > T | Gln46* | Familial | 29 | <0.06 | - |
1 | del 103370996-103528207 | Sporadic | 18 | 0.03 | ||
2 | del 103436974-103652655 | Sporadic | 14 | <0.1 | ||
3 | c.137del | Ile47Tyrfs*2 | Sporadic | 14 | 4.85 | |
4 | c.160-1 G > A | NA | Familial | 77 | NA | |
5 | c.187del | Glu63Lysfs*64 | Familial | 47 | NA | |
6 | c.200 A > G | His67Arg | Familial | 44 | NA | |
7 | c.259-4 A > G | intronic | Sporadic | 21 | NA | |
8 | c.260 T > G | Ile87Ser | Sporadic | NA | NA | |
9 | c.293 T > A | Val98Asp | Sporadic | NA | NA | |
10 | c.295 C > T | Gln99* | Sporadic | 20 | NA | |
11 | c.465dupA | Ala156Serfs*12 | Familial | 2 | 5.17 | |
12 | c.469 C > T | Arg157* | Familial | 48 | NA | |
13 | c.470 G > C | Arg157Pro | Familial | 42 | <0.33 | |
14 | c.494delG | Gly165Afs*32 | Familial | NA | 2.32 | |
15 | c.705 G > A | NA | Familial | 3 | 9.58 | |
16 | c.730+4 A > G | ASsp191_Lys244delinsGlu | Sporadic | 7 | 1.6 | |
17 | c.778_779insCTGTC | Gly261Valfs*5 | Familial | 44 | NA | |
18 | c.830dup | Lys278Glufs*3 | Sporadic | NA | NA | |
19 | c.835+2 T > G | Lys244_Asp279delinsAsn | Familial | 64 | 1.42 | |
20 | c.843 C > G | Ile281Met | Sporadic | NA | NA | |
21 | c.850 C > T | Arg284* | Familial | 21 | NA | |
22 | c.874delG | Gly292Valfs*140 | Familial | 16 | 2.11 | |
23 | c.904dupT | Ser302Phefs*7 | Familial | 35 | 4.38 | |
24 | c.957 T > A | Tyr319* | Sporadic | 19 | NA | |
25 | c.1005del | Arg336Glyfs*96 | Sporadic | NA | NA | |
26 | c.1012delT | Ser338Leufs*94 | Familial | 52 | 6.05 | |
27 | c.1149delT | His352Arg | Familial | 34 | 1.03 | |
28 | c.1365delT | Val456* | Sporadic | 43 | 0.08 | |
29 | c.1375delT | Phe459Leufs*26 | Sporadic | 7 | NA | |
30 | c.1423del | Ala475Profs*10 | Familial | 47 | NA | |
31 | c.1301-1 G > A | intronic | Sporadic | 19 | <0.51 | |
32 | c.1517delC | Ala506Valfs*17 | Sporadic | 13 | 1.6 | |
33 | c.1539_1543del | His513Glnfs*28 | Familial | 45 | NA | |
34 | c.1621_1622del | Asp541* | Familial | 34 | NA | |
35 | c.1659C>G | Ile553Met | Familial | 36 | NA | |
36 | c.1726dupA | Ile567Asnfs*6 | Sporadic | 42 | 2.14 | |
37 | c.2041 C > T | Gln681* | Familial | 10 | NA | |
