44
Management
Table 13A. Key Examples of Precision Medicine in IEI
Associated IEI Therapeutic agent
JAX/STAT gain-of-function disorders
STAT1 gain of function Ruxolitinib
Baricitinib
STAT3 gain of function Ruxolitinib
Tofacitinib
STAT4 gain of function Ruxolitinib
STAT5b gain of function Ruxolitinib
SOCS1 deficiency Baricitinib
Tofacitinib
Interferonopathies
USP18 deficiency, SAVI, Aicardi-
Goutières syndrome, CANDLE
Ruxolitinib
Baricitinib
Tofacitinib
SCID due to ADA deficiency
ADA deficiency Elepegademase
CVID with complications
CTLA-4 haploinsufficiency Abatacept or Belatacept
LRBA deficiency (CTLA-4-Ig )
Inflammasome-related disorders
CAPS (FCAS1, MWS, NOMID/
CINCA; NLRP3)
Anakinra
Rilonacept
Canakinumab
TRAPS (TNFRSF1A) Canakinumab
FMF (MEFV)
MKD (MVK)
DIRA (IL1RN) Anakinra
Rilonacept
PAPA syndrome (PSTPIP1) Anakinra
FCAS24 (NLRC4) Canakinumab
Majeed syndrome (LPIN2)
