Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel
PIK3CD
activated PI3K-delta syndrome
inborn error of immunity
nodular lymphoid hyperplasia-GIT
novel variant
sirolimus
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
30
04
2021
accepted:
01
09
2021
entrez:
25
10
2021
pubmed:
26
10
2021
medline:
26
10
2021
Statut:
epublish
Résumé
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 isolated diffuse NLH (extending from the stomach to the rectum) caused by activated PI3Kδ syndrome (APDS) due to the novel p.Glu525Gly variant in
Identifiants
pubmed: 34692603
doi: 10.3389/fped.2021.703056
pmc: PMC8528001
doi:
Types de publication
Case Reports
Langues
eng
Pagination
703056Informations de copyright
Copyright © 2021 Marzollo, Bresolin, Colavito, Cani, Gaio, Bosa, Mescoli, Rossini, Barzaghi, Perilongo, Leon, Biffi and Cananzi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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