Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient

Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient

Introduction: Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is a rare primary immune regulatory disorder caused by heterozygous gain of function mutation in the PIK3R1 gene encoding PI3Kδ regulatory p85α subunit and resulting in PI3Kδ hyperactivation. Clinical features range from recurren...

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Main Authors: Francesca Conti, Arianna Catelli, Cristina Cifaldi, Lucia Leonardi, Rita Mulè, Marco Fusconi, Vittorio Stefoni, Maria Chiriaco, Beatrice Rivalta, Silvia Di Cesare, Gioacchino Schifino, Fabiana Sbrega, Gigliola Di Matteo, Simona Ferrari, Caterina Cancrini, Andrea Pession
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Pediatrics
Subjects:
lymphoma
refractory SLE
immunodeficiency
PIK3R1
PI3K signaling
APDS2
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.702546/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.702546/full

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