Article
Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.
The Journal of clinical investigation - 2 Nov 2020
Tan Enrica Ek, Hopkins Richard A, Lim Chrissie K, Jamuar Saumya S, Ong Christina, Thoon Koh C, Koh Mark Ja, Shin Eun Mong, Lian Derrick Wq, Weerasooriya Madhushanee, Lee Christopher Zw, Soetedjo Andreas Alvin Pumomo, Lim Chang Siang, Au Veonice B, Chua Edmond, Lee Hui Yin, Jones Leigh Ann, James Sharmy S, Kaliaperumal Nivashini, Kwok Jeffery, Tan Ee Shien, Thomas Biju, Wu Lynn Xue, Ho Lena, Fairhurst Anna Marie, Ginhoux Florent, Teo Adrian Kk, Zhang Yong Liang, Ong Kok Huar, Yu Weimiao, Venkatesh Byrappa, Tergaonkar Vinay, Reversade Bruno, Chin Keh Chuang, Tan Ah Moy, Liew Woei Kang, Connolly John E
Abstract excerpt
Although IKK-β has previously been shown as a negative regulator of IL-1β secretion in mice, this role has not been proven in humans. Genetic studies of NF-κB signaling in humans with inherited diseases of the immune system have not demonstrated the relevance of the NF-κB pathway in suppressing IL-1β expression. Here, we report an infant with a clinical pathology comprising neutrophil-mediated autoinflammation...
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