Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2

BackgroundThe 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.Method...

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Bibliografiske detaljer

Principais autores:	Qi Peng, Dong Luo, Yi Yang, Yinghua Zhu, Qingming Luo, Huan Chen, Dapeng Chen, Zhongjun Zhou, Xiaomei Lu
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2023-01-01
Serier:	Frontiers in Immunology
Fag:	autoinflammation disease PLCG2 phospholipase Cγ2 APLAID NGS
Online adgang:	https://www.frontiersin.org/articles/10.3389/fimmu.2023.1014150/full
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