Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report

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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Bibliographic Details
Main Authors: Mónica Fernandes-Pineda, Andrés F. Zea-Vera
Format: Article
Language:English
Published: Instituto Nacional de Salud 2024-12-01
Series:Biomédica: revista del Instituto Nacional de Salud
Subjects:
immune system diseases
phosphatidylinositol 3-kinase
hyper-igm immunodeficiency syndrome
autoimmunity
human genetics
genetic testing
Online Access:https://revistabiomedica.org/index.php/biomedica/article/view/7436
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