Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.
Tan EE, Hopkins RA, Lim CK, Jamuar SS, Ong C, Thoon KC, Koh MJ, Shin EM, Lian DW, Weerasooriya M, Lee CZ, Soetedjo AAP, Lim CS, Au VB, Chua E, Lee HY, Jones LA, James SS, Kaliaperumal N, Kwok J, Tan ES, Thomas B, Wu LX, Ho L, Fairhurst AM, Ginhoux F, Teo AK, Zhang YL, Ong KH, Yu W, Venkatesh B, Tergaonkar V, Reversade B, Chin KC, Tan AM, Liew WK, Connolly JE.
Tan EE, et al. Among authors: soetedjo aap.
J Clin Invest. 2020 Nov 2;130(11):5817-5832. doi: 10.1172/JCI98882.
J Clin Invest. 2020.
PMID: 32750042
Free PMC article.