Table 2 Summary of targeted therapy in all the reported patients with a STAT3 GOF mutation

a. sex

female

male

male

female

female

female

male

female

male

female

male

male

b. onset age

3 mo

4 yr

6 mo

5 mo

1 yr

1 yr

1 mo

7 yr

3 yr

7 mo

7 yr

c. age

16 yr

10 yr

38 yr

19 yr

9 yr

21 yr

20 yr

8 yr

14 yr

3 yr

8 yr

13 yr

15 yr

d. infections

Y

Y

Y

Y

Y

e. cytopenia

Y

Y

Y

Y

Y

Y

Y

Y

f. enteropathy

Y

Y

Y

Y

Y

Y

Y

Y

Y

g. hepatitis

Y

Y

Y

Y

Y

h. endocrine disease

Y

Y

Y

Y

Y

i. arthritis

Y

Y

Y

Y

Y

j. lymphadenopathy

Y

Y

Y

k. hepatosplenomegaly

Y

Y

Y

Y

Y

Y

Y

Y

Y

Y

l. interstitial lung disease

Y

Y

Y

Y

Y

m. short stature

Y

Y

Y

Y

Y

Y

Y

Y

Y

Y

Y

Y

n. reason of for targeted therapy

pancytopenia,

arthritis

enteropathy,

colitis

interstitial lung disease

arthritis,

interstitial lung disease

hepatosplenomegaly,

hepatotitis,

enteropathy,

interstitial lung disease

arthritis

enteropathy,

hepatosplenomegaly

dermopathy

interstitial lung disease

anemia

interstitial lung disease

o. tocilizumab alone

✓

✓

✓

p. combination of tocilizumab and a JAK inhibitor

✓

✓

✓

✓

✓

✓

✓

✓

✓

q. JAK inhibitor alone

✓

r. efficiency of targeted therapy

yes

yes

yes

yes

yes

yes

yes

yes

no

yes

yes

yes

no

s. outcome

alive

alive

alive

alive

alive

alive

alive

alive

dead

dead

dead

alive

dead

t. mutantmutation in of STAT3

G421R

G421R

G421R

N401D

E415L

V393A

M329K

R152W

F174S

E286G

Q344H

G421R

P715L

u. reference

our report

[2]

[4]

[13]

[11]

[12]

[11]

[10]

[10]

[10]

[10]

[10]

[10]