Article
Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2.
Frontiers in immunology - 1 Jan 2023
Peng Qi, Luo Dong, Yang Yi, Zhu Yinghua, Luo Qingming, Chen Huan, Chen Dapeng, Zhou Zhongjun, Lu Xiaomei
Abstract excerpt
Background: The APLAID syndrome is a rare primary immunodeficiency caused by gain-of-function mutations in the PLCG2 gene. We present a 7-year-old APLAID patient who has recurrent blistering skin lesions, skin infections in the perineum, a rectal perineal fistula, and inflammatory bowel disease. Methods: To determine the genetic cause of our patient, WES and bioinformatics analysis were performed. Flow cytometry...
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