Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea

Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in PIK3CD, which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein, we investigated clinical manifestations of APD...

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Bibliographische Detailangaben
Veröffentlicht in:Yonsei Med J
Hauptverfasser: Kang, Ji-Man, Kim, Su Kyung, Kim, Dongsub, Choi, Sae Rom, Lim, Yeon Jung, Kim, Soon Ki, Park, Byung-Kiu, Park, Weon Seo, Kang, Eun-Suk, Ko, Young Hyeh, Choe, Yon Ho, Lee, Ji Won, Kim, Yae-Jean
Format: Artigo
Sprache:Inglês
Veröffentlicht: Yonsei University College of Medicine 2020
Schlagworte:
Brief Communication
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7256007/
https://ncbi.nlm.nih.gov/pubmed/32469178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2020.61.6.542
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