Table 1.

Gene mutations in patients

1 CYBA c.70G>A (p.Gly24Arg) 
2 IKZF1. p.Arg162Trp 
3 INO80. p.Arg1281Gln 
4 INO80. p.Leu205Arg 
5 INO80. p.Val1108Gly 
6 IRF2BP2. p.Pro118Ser 
7 IRF2BP2. p.Pro127Ser 
8 LPIN2. p.Asn833* 
9 NFKB1. essential splicing 
10 NFKB1. essential splicing 
11 NFKB1. p.Leu615Phe 
12 NFKB1. p.Gln199* 
13 NFKB1. p.Phe459fs 
14 NFKB2. p.His98Asn; TNFRSF13B p.Cys104Arg 
15 PI3KCD Glu1021Lys 
16 PIK3R1. start_gained 
17 PMM2. p.Arg141His 
18 SPI1. p.Gly156Arg 
19 STAT3. p.Arg246Gln 
20 STAT3. p.V353F 
21 STXBP2. p.Gly541Ser 
22 STXBP2. p.Pro345Leu 
23 TACI p. Cys172Phe 
24 TACI. p.Leu171Arg 
25 TNFRSF13B p.Leu69fs 
26 TNFRSF13B p.Ile87Asn 
27 TNFRSF13B p.Cys104Arg 
28 TNFRSF13B p.Cys104Arg homozygous 
29 TNFRSF13B p.Ala181Glu 
30 TNFRSF13B p.Arg202Cys 
31 TNFRSF13B p.Cys104Arg 
32 TNFRSF13B p.Lys188del 
[ViewLarge]
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal

Gift article access

As a benefit of your subscription, you can share temporary access to restricted articles.

Each link will stop working after 30 days or 10 uses. You may create up to 10 links in a 30 day period.

Please sign in to your personal account to gift article access.

Register

Gift article access

As a benefit of your subscription, you can share temporary access to restricted articles.

Each link will stop working after 30 days or 10 uses. You may create up to 10 links in a 30 day period.

Gift articles remaining: --

Gift article access

Each link will stop working after 30 days or 10 uses. You may create up to 10 links in a 30 day period.

Gift articles remaining: --

Gift article access

As a benefit of your subscription, you can share temporary access to restricted articles.

Each link will stop working after 30 days or 10 uses.

You have reached the limit of 10 links within a 30 day period.

Sharing Unavailable

Sharing content requires targeting cookies to be enabled. Please update your cookie preferences to use this feature.