. Author manuscript; available in PMC: 2021 Jan 10.

Published in final edited form as: Sci Immunol. 2020 Jul 10;5(49):eabb1662. doi: 10.1126/sciimmunol.abb1662

Table 1.

Targeted therapies for treatment of selected monogenic immune dysregulatory conditions.

Immune dysregulatory condition	Molecular pathogenic pathway targeted	Treatment	References
STAT1 GOF	STAT1 hyperactivation	JAK inhibition (ruxolitinib)	(145)
STAT3 GOF	STAT3 hyperactivation	JAK inhibition (ruxolitinib, tofacitinib)	(145)
CANDLE syndrome (proteasome complex component LOF)	Type I IFN hyperactivation	JAK inhibition (baricitinib)	(93)
SAVI (STING GOF)	Type I IFN hyperactivation	JAK inhibition (baricitinib)	(93)
CTLA-4 haploinsufficiency	T cell costimulatory pathway hyperactivation	CTLA-4-Fc fusion protein (abatacept, belatacept)	(146)
LRBA deficiency	Increased CTLA-4 degradation leading to T cell costimulatory pathway hyperactivation	CTLA-4-Fc fusion protein (abatacept)	(84)
APDS (PASLI) (PIK3CD or PIK3R1 GOF)	PI3K pathway hyperactivation	PI3K inhibition (leniolisib)	(147)
CHAPLE (CD55 deficiency)	Complement hyperactivation	Eculizumab, pozelimab (in testing)	(148)
Inflammasomapathies (NLRP1, NLRP3, PSTPIP1 GOF; LPIN2, MEVK, WDR1, DIRA or IL1RN deficiencies, etc.)	IL-1 hyperactivation	IL-1 antagonists (anakinra, canakinumab, rilonacept)	(91)