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病例报告：肠道结节性淋巴样增生作为由一种新型变异导致的活化PI3Kδ综合征的首发表现

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

作者信息

Marzollo Antonio, Bresolin Silvia, Colavito Davide, Cani Alice, Gaio Paola, Bosa Luca, Mescoli Claudia, Rossini Linda, Barzaghi Federica, Perilongo Giorgio, Leon Alberta, Biffi Alessandra, Cananzi Mara

机构信息

Division of Pediatric Hematology, Oncology and Stem Cell Transplant, Padua University Hospital, Padua, Italy.

Fondazione Citta' della Speranza, Istituto di Ricerca Pediatrica, Padua, Italy.

出版信息

Front Pediatr. 2021 Oct 6;9:703056. doi: 10.3389/fped.2021.703056. eCollection 2021.

DOI:10.3389/fped.2021.703056
PMID:34692603
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8528001/
Abstract

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 . The effect of the variant was confirmed by demonstration of over activation of the Akt/mTOR pathway in the patient's cells. APDS diagnosis led to treatment with sirolimus, which resulted in the complete remission of NLH and in the prevention of extra intestinal complications. In conclusion, we identify APDS as a novel cause of isolated NLH and suggest that patients with severe pan-enteric NLH should be screened for this disorder that may not be apparent on first-line immunological testing.

摘要

结节性淋巴组织增生（NLH）是一种由肠道黏膜中淋巴样细胞非克隆性扩增引起的淋巴增殖性疾病。人们对NLH的发病机制知之甚少，它常被视为一种无足轻重或类似生理现象而被忽视。我们报告了一例由激活的PI3Kδ综合征（APDS）导致的孤立性弥漫性NLH（从胃延伸至直肠）女童病例，该综合征是由 中的新型p.Glu525Gly变异引起的。通过证明患者细胞中Akt/mTOR通路的过度激活，证实了该变异的作用。APDS诊断导致使用西罗莫司进行治疗，这使NLH完全缓解，并预防了肠外并发症。总之，我们确定APDS是孤立性NLH的一个新病因，并建议对患有严重全肠道NLH的患者进行该疾病的筛查，因为一线免疫检测可能无法发现该疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/899b/8528001/2d184b0a7c09/fped-09-703056-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/899b/8528001/d6fc3e16cc3f/fped-09-703056-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/899b/8528001/2d184b0a7c09/fped-09-703056-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/899b/8528001/d6fc3e16cc3f/fped-09-703056-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/899b/8528001/2d184b0a7c09/fped-09-703056-g0002.jpg

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