Activated PI3Kδ syndrome 1 mimicking systemic lupus erythematosus and secondary Sjögren's syndrome-like phenotype without recurrent infections: A case report

Activated phosphoinositide 3-kinase-δ syndrome 1 (APDS1) is a combined immunodeficiency caused by a heterozygous gain-of-function mutation in PIK3CD, encoding the p110δ catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). APDS1 is characterized by recurrent sinopulmonary infections, leading to...

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Detalles Bibliográficos
Autores principales: Yin, Jing, Ma, Jijun, Xia, Jingyue, Cao, Yang, Li, Chongwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9807900/
https://www.ncbi.nlm.nih.gov/pubmed/36605759
http://dx.doi.org/10.3389/fped.2022.1077324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9807900/
https://www.ncbi.nlm.nih.gov/pubmed/36605759
http://dx.doi.org/10.3389/fped.2022.1077324

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