Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report
Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (...
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Main Authors: | Mónica Fernandes-Pineda, Andrés F. Zea-Vera |
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Format: | Article |
Language: | English |
Published: |
Instituto Nacional de Salud
2024-12-01
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Series: | Biomédica: revista del Instituto Nacional de Salud |
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Online Access: | https://revistabiomedica.org/index.php/biomedica/article/view/7436 |
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