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Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1

BACKGROUND: Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ catalytic p110δ (PIK3CD). APDS1 has a spectrum of clinical manifestations. Recurrent respiratory infections, lymphoprolife...

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Detalles Bibliográficos
Autores principales: Jiang, Lu, Hu, Xiaohan, Lin, Qiang, Chen, Ruyue, Shen, Yunyan, Zhu, Yun, Xu, Qinying, Li, Xiaozhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10518115/
https://www.ncbi.nlm.nih.gov/pubmed/37742016
http://dx.doi.org/10.1186/s13223-023-00840-0