| 概要 |
Autoinflammation and autoimmunity, systemic, with immune dysregulation (AIAISD) is a rare syndrome of autoimmune disease characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease. It has been reported that mutations in COPA cause this syndrome. COPA encodes the COPA subunit of the coat protein complex I (COPI). COPI and COPII are key components of the vesicular trafficking machinery between the endoplasmic reticulum (ER) and the Golgi. Recently, AIAISD caused by mutation in OAS2 has also been reported.
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| 著者 |
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK |
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| 著者 |
Merold V, Bekere I, Kretschmer S, Schnell AF, Kmiec D, Sivarajan R, Lammens K, Liu R, Mergner J, Teppert J, Hirschenberger M, Henrici A, Hammes S, Buder K, Weitz M, Hackmann K, Koenig LM, Pichlmair A, Schwierz N, Sparrer KMJ, Lee-Kirsch MA, de Oliveira Mann CC |
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