Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome

• मुख्य लेखकों: Cuili Yi (लेखक), Qiyuan Li (लेखक), Jihong Xiao (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mu...