Skip to main content
. 2023 Apr 21;43(6):1289–1301. doi: 10.1007/s10875-023-01472-0

Table 2.

Candidate genes known to cause multi-organ autoimmunity or autoinflammation

Gene abbreviation Gene name
AIRE Autoimmune regulator
ADA2 Adenosine deaminase 2
BACH2 BTB domain and CNC homolog 2
CD25/IL2-RA Interleukin 2 receptor subunit alpha
CTLA4 Cytotoxic T-lymphocyte associated protein 4
FOXP3 Forkhead box P3
ICOS Inducible T cell costimulator
LAT Linker for activation of T cells
LRBA LPS responsive beige-like anchor protein
NFKB1 Nuclear factor kappa B subunit 1
NFKB2 Nuclear factor kappa B subunit 2
PIK3CD Phosphoinositide 3 kinase catalytic subunit delta
PIK3R1 Phosphoinositide 3 kinase regulatory subunit 1
PRKCD Protein kinase C delta
RELA Nuclear factor kappa B subunit 3
SOCS1 Suppressor of cytokine signaling 1
STAT1-GOF Signal transducer and activator of transcription 1
STAT3-GOF Signal transducer and activator of transcription 3
TNFRSF13B Tumor necrosis factor receptor superfamily member 13B
TPP2 Tripeptidyl peptidase 2

GOF, gain-of-function