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Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, Kenichi Yoshida, Tzu‐Wen Yeh, Akihiro Hoshino, Jinhua Piao, Motoy Yamashita, Mai Nanya, Tsubasa Okano,

Journal of Allergy and Clinical Immunology · 2016 · 103 citations · 20 references

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References

20

Failure to Regulate TNF-Induced NF-κB and Cell Death Responses in A20-Deficient Mice

Eric G. Lee, David L. Boone, Sophia Chai et al. · Science · 2000 · 1.4K citations · Full text

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Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>

Hye Sun Kuehn, Weiming Ouyang, Bernice Lo et al. · Science · 2014 · 846 citations

, , +17

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Desirée Schubert, Claudia Bode, Rupert Kenefeck et al. · Nature Medicine · 2014 · 822 citations · Full text

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Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

Bernice Lo, Kejian Zhang, Wei Lü et al. · Science · 2015 · 684 citations

, , +17

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Qing Zhou, Hongying Wang, Daniella M. Schwartz et al. · Nature Genetics · 2015 · 633 citations · Full text

, , +15