Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant

Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant

Nodular lymphoid hyperplasia (NLH) is a lymphoproliferative disease caused by non-clonal expansion of lymphoid cells in the gut mucosa. Little is known about the pathogenesis of NLH, which is often disregarded as an insignificant or para-physiologic phenomenon. We present the case of a girl with iso...

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Bibliographic Details
Main Authors: Antonio Marzollo, Silvia Bresolin, Davide Colavito, Alice Cani, Paola Gaio, Luca Bosa, Claudia Mescoli, Linda Rossini, Federica Barzaghi, Giorgio Perilongo, Alberta Leon, Alessandra Biffi, Mara Cananzi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Pediatrics
Subjects:
inborn error of immunity
nodular lymphoid hyperplasia-GIT
activated PI3K-delta syndrome
novel variant
sirolimus
PIK3CD
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.703056/full

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