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

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. MET...

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Detalles Bibliográficos
Autores principales: Peng, Qi, Luo, Dong, Yang, Yi, Zhu, Yinghua, Luo, Qingming, Chen, Huan, Chen, Dapeng, Zhou, Zhongjun, Lu, Xiaomei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911665/
https://www.ncbi.nlm.nih.gov/pubmed/36776842
http://dx.doi.org/10.3389/fimmu.2023.1014150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911665/
https://www.ncbi.nlm.nih.gov/pubmed/36776842
http://dx.doi.org/10.3389/fimmu.2023.1014150

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