Concepedia

A gain-of-function variation in PLCG1 causes a new immune dysregulation disease

Panfeng Tao, Xu Han, Qintao Wang, Shihao Wang, Jiahui Zhang, Lin Liu, Xiaorui Fan, Chenlu Liu, Meng Liu, Li Guo,

Journal of Allergy and Clinical Immunology · 2023 · 37 citations · 33 references

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33

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

The International FMF Consortium · Cell · 1997 · 1.5K citations · Full text

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Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora et al. · New England Journal of Medicine · 2020 · 1.2K citations · Full text

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An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson et al. · New England Journal of Medicine · 2009 · 992 citations · Full text

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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou, Dan Yang, Amanda K. Ombrello et al. · New England Journal of Medicine · 2014 · 893 citations · Full text

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Expanded Double Negative T Cells in Patients with Systemic Lupus Erythematosus Produce IL-17 and Infiltrate the Kidneys

José C. Crispín, Mohamed Oukka, George Bayliss et al. · The Journal of Immunology · 2008 · 793 citations · Full text

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