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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Egile Nagusiak:	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
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Frontiers Media S.A. 2021-07-01
Saila:	Frontiers in Pediatrics
Gaiak:	lymphoma refractory SLE immunodeficiency PIK3R1 PI3K signaling APDS2
Sarrera elektronikoa:	https://www.frontiersin.org/articles/10.3389/fped.2021.702546/full
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!