| 概要 |
Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is a new immune dysregulation disease. It has been reported that a gain-of-function mutation in PLCG1 causes this disease. PLCG1 encodes phospholipase C gamma 1, an enzyme activated by receptor and non-receptor tyrosine kinases and hydrolyzes phosphatidylinositol 4,5-bisphosphate to produce critical second messengers, including diacylglycerol (DAG) and inositol-1,4,5-trisphosphate (IP3).
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| 著者 |
Tao P, Han X, Wang Q, Wang S, Zhang J, Liu L, Fan X, Liu C, Liu M, Guo L, Lee PY, Aksentijevich I, Zhou Q |
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