1 |
BB |
MM |
Dysregulation |
19 |
M |
HIDS |
AR
MVK:c.928G>A,p.V310M |
1 mo after dose 3 |
Anakinra,
MTX |
3.14 |
NA |
2 |
BB |
MM |
Humoral |
29 |
M |
XLA |
XL
BTK:c.1567-2A>T (splicing) |
3 mo before dose 3 |
SCIG |
1.55 |
1075 |
3 |
BB |
MM |
Humoral |
28 |
M |
XLA |
XL
BTK:c.942A>G (splicing) |
/ |
SCIG |
1.25 |
1241 |
4 |
BB |
MM |
Innate |
28 |
M |
STAT1 GOF |
AD
STAT1:c.800C>T,p.A267V |
/ |
/ |
NA |
NA |
5 |
BB |
MM |
Phagocytic |
16 |
M |
X-CGD, post-HSCT |
XL
CYBB:c.1437C>A ,p.Y479* |
/ |
/ |
NA |
NA |
6 |
BBB |
MMD |
Combined |
16 |
F |
STAT3 LOF |
AD
STAT3:c.2134T>C,p.C712R |
/ |
IVIG |
1.99 |
NA |
7 |
BBB |
MMD |
Dysregulation |
26 |
M |
XMEN |
XL
MAGT1:c.916delC,p.L306fs |
/ |
IVIG |
1.43 |
939 |
8 |
BBB |
MMD |
Humoral |
13 |
M |
XLA |
XL
BTK:c.1696C>T,p.P566S |
/ |
IVIG |
5.55 |
1020 |
9 |
BBB |
MMD |
Innate |
15 |
M |
STAT1 GOF |
AD
STAT1:c.1170G>A,p.M390I |
/ |
/ |
NA |
NA |
10 |
BBB |
MMM |
Combined |
21 |
M |
AT |
/ |
/ |
IVIG |
0.92 |
824 |
11 |
BBB |
MMM |
Combined |
49 |
M |
XLT |
XL
WAS:c.134C>T,p.T45M |
/ |
/ |
1.2 |
NA |
12 |
BBB |
MMM |
Dysregulation |
18 |
F |
HLH |
/ |
/ |
IVIG, MMF, pred |
0.52 |
803 |
13 |
BBB |
MMM |
Humoral |
34 |
M |
XLA |
XL
BTK:c.887del,p.K296Sfs*35 |
1 wk after dose 3 |
IVIG |
1.01 |
1089 |
14 |
BBB |
MMM |
Humoral |
13 |
M |
XLA |
XL
BTK:c.1111T>C,p.S371P |
/ |
IVIG |
1.8 |
750 |
15 |
BBB |
MMM |
Humoral |
30 |
M |
XLA |
XL
BTK:c.41C>A,p.S14Y |
/ |
IVIG |
1.7 |
1044 |
16 |
BBB |
MMM |
Innate |
30 |
M |
STAT1 GOF |
AD
STAT1:c.1151G>A,p.G384D |
/ |
/ |
0.99 |
1148 |
17 |
BBB |
MMM |
Innate |
19 |
F |
STAT1 GOF |
AD
STAT1:c.1074G>T,p.L358F |
/ |
/ |
0.45 |
1111 |
18 |
BBB |
MMM |
Phagocytic |
50 |
F |
X-CGD carrier |
XL
CYBB:c.469C>T,p.R157* |
/ |
/ |
1.59 |
NA |
19 |
BBB |
MMM |
Phagocytic |
23 |
M |
X-CGD, post-HSCT |
XL
CYBB:c.1498G>C ,p.D500H |
/ |
/ |
2.66 |
1077 |
20 |
BBB |
MMM |
Phagocytic |
14 |
M |
X-CGD |
XL
CYBB:c.469C>T,p.R157* |
/ |
/ |
2.17 |
NA |
21 |
CC |
MM |
Combined |
13 |
M |
XLT |
XL
WAS:c.116T>G,p.L39R |
/ |
/ |
NA |
NA |
22 |
CC |
MM |
Humoral |
5 |
F |
Agamma |
/ |
2 wk after dose 1 |
IVIG |
1.32 |
1119 |
23 |
CC |
MM |
Humoral |
11 |
M |
XLA |
XL
BTK:c.3G>T,p.M1I |
/ |
IVIG |
2.58 |
814 |
24 |
CC |
MM |
Humoral |
30 |
M |
XLA |
XL
BTK:c.3G>T,p.M1I |
/ |
IVIG |
2.14 |
1409 |
25 |
CC |
MM |
Phagocytic |
10 |
F |
AR-CGD, post-HSCT |
AR
CYBA:c.371C>T,p.A124V |
/ |
/ |
2.05 |
973 |
26 |
CCC |
DDD |
Combined |
15 |
M |
X-SCID, post-HSCT |
XL
IL2RG:c.562C>T,p.Q188* |
1 mo before dose 3 |
/ |
2.23 |
1289 |
27 |
CCC |
DDD |
Innate |
8 |
M |
CARD9 |
AR het
CARD9:c.586A>G,p.K196E and
c.1526G>A,p.R509K |
/ |
/ |
1.91 |
NA |
28 |
CCC |
MMM |
Dysregulation |
8 |
M |
CINCA |
AD
NLRP3:c.1711G>C,p.G571R |
/ |
Canakinumab |
NA |
NA |
29 |
CCC |
MMM |
Dysregulation |
15 |
M |
CINCA |
AD somatic mosaicism
NLRP3:c. 998G>T,p.S333I |
1 mo after dose 3 |
MTX,
canakinumab |
1.6 |
1361 |
30 |
CCC |
MMM |
Humoral |
5 |
M |
XLA |
XL
BTK:c.1559G>C,p.R520P |
/ |
IVIG |
2.7 |
717 |
31 |
CCC |
MMM |
Humoral |
7 |
M |
XLA |
XL
BTK:c.1559G>C,p.R520P |
/ |
IVIG |
2 |
613 |
32 |
CCC |
MMM |
Humoral |
19 |
F |
CVID |
/ |
/ |
IVIG, HCQ, MMF, pred |
2.14 |
864 |
33 |
CCC |
MMM |
Humoral |
18 |
M |
XLA |
XL
BTK:c.332T>C,p.L111P |
/ |
IVIG |
1.7 |
NA |
34 |
CCC |
MMM |
Humoral |
32 |
M |
XLA |
XL
BTK:c.41C>A,p.S14Y |
/ |
IVIG |
1.8 |
1076 |
35 |
CCC |
MMM |
Humoral |
14 |
M |
XLA |
XL
BTK:c.947_948del,p.T316Sfs*6 |
/ |
IVIG |
3.04 |
1279 |
36 |
CCC |
MMM |
Humoral |
15 |
M |
XLA |
XL
BTK:c.1535T>C,p.L512P |
3 mo after dose 3 |
IVIG |
2.12 |
916 |
37 |
CCC |
MMM |
Humoral |
34 |
M |
XLA |
XL BTK:EX2-EX3del |
/ |
IVIG |
2.7 |
NA |
38 |
CCC |
MMM |
Phagocytic |
11 |
M |
SCN |
AD
ELA2:c.362T>C,p.L121P |
/ |
G-CSF |
3.12 |
NA |
39 |
CCC |
MMM |
Phagocytic |
51 |
M |
SCN |
AD
ELA2:c.362T>C,p.L121P |
/ |
/ |
NA |
NA |