Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome

Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by acquired gene function mutation (GOF). APDS has a variety of clinical phenotypes, particularly recurrent respiratory infections and lymphoproliferation. Here we report a pediatric patien...

Descripción completa

Detalles Bibliográficos
Autores principales: Yin, Zexi, Tian, Xin, Zou, Runying, He, Xiangling, Chen, Keke, Zhu, Chengguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724197/
https://www.ncbi.nlm.nih.gov/pubmed/34992612
http://dx.doi.org/10.3389/fimmu.2021.813261
_version_ 1784625873787289600
author Yin, Zexi
Tian, Xin
Zou, Runying
He, Xiangling
Chen, Keke
Zhu, Chengguang
author_facet Yin, Zexi
Tian, Xin
Zou, Runying
He, Xiangling
Chen, Keke
Zhu, Chengguang
author_sort Yin, Zexi
collection PubMed
description Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by acquired gene function mutation (GOF). APDS has a variety of clinical phenotypes, particularly recurrent respiratory infections and lymphoproliferation. Here we report a pediatric patient with APDS who presented with recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, bronchoscopy suggesting numerous nodular protrusions in the airways and a decrease in both T and B lymphocytes, and progression to plasmablastic lymphoma (PBL) after 1 year. Whole exome sequencing revealed a heterozygous mutation in the PIK3CD gene (c.3061 G>A p.E1021K). This is the first reported case of APDS combined with PBL and pediatricians should follow up patients with APDS regularly to be alert for secondary tumours.
format Online
Article
Text
id pubmed-8724197
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-87241972022-01-05 Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome Yin, Zexi Tian, Xin Zou, Runying He, Xiangling Chen, Keke Zhu, Chengguang Front Immunol Immunology Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by acquired gene function mutation (GOF). APDS has a variety of clinical phenotypes, particularly recurrent respiratory infections and lymphoproliferation. Here we report a pediatric patient with APDS who presented with recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, bronchoscopy suggesting numerous nodular protrusions in the airways and a decrease in both T and B lymphocytes, and progression to plasmablastic lymphoma (PBL) after 1 year. Whole exome sequencing revealed a heterozygous mutation in the PIK3CD gene (c.3061 G>A p.E1021K). This is the first reported case of APDS combined with PBL and pediatricians should follow up patients with APDS regularly to be alert for secondary tumours. Frontiers Media S.A. 2021-12-21 /pmc/articles/PMC8724197/ /pubmed/34992612 http://dx.doi.org/10.3389/fimmu.2021.813261 Text en Copyright © 2021 Yin, Tian, Zou, He, Chen and Zhu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Yin, Zexi
Tian, Xin
Zou, Runying
He, Xiangling
Chen, Keke
Zhu, Chengguang
Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
title Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
title_full Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
title_fullStr Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
title_full_unstemmed Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
title_short Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
title_sort case report: first occurrence of plasmablastic lymphoma in activated phosphoinositide 3-kinase δ syndrome
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724197/
https://www.ncbi.nlm.nih.gov/pubmed/34992612
http://dx.doi.org/10.3389/fimmu.2021.813261
work_keys_str_mv AT yinzexi casereportfirstoccurrenceofplasmablasticlymphomainactivatedphosphoinositide3kinasedsyndrome
AT tianxin casereportfirstoccurrenceofplasmablasticlymphomainactivatedphosphoinositide3kinasedsyndrome
AT zourunying casereportfirstoccurrenceofplasmablasticlymphomainactivatedphosphoinositide3kinasedsyndrome
AT hexiangling casereportfirstoccurrenceofplasmablasticlymphomainactivatedphosphoinositide3kinasedsyndrome
AT chenkeke casereportfirstoccurrenceofplasmablasticlymphomainactivatedphosphoinositide3kinasedsyndrome
AT zhuchengguang casereportfirstoccurrenceofplasmablasticlymphomainactivatedphosphoinositide3kinasedsyndrome

Ejemplares similares