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Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1

BACKGROUND: Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ catalytic p110δ (PIK3CD). APDS1 has a spectrum of clinical manifestations. Recurrent respiratory infections, lymphoprolife...

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Autores principales: Jiang, Lu, Hu, Xiaohan, Lin, Qiang, Chen, Ruyue, Shen, Yunyan, Zhu, Yun, Xu, Qinying, Li, Xiaozhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10518115/
https://www.ncbi.nlm.nih.gov/pubmed/37742016
http://dx.doi.org/10.1186/s13223-023-00840-0
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author Jiang, Lu
Hu, Xiaohan
Lin, Qiang
Chen, Ruyue
Shen, Yunyan
Zhu, Yun
Xu, Qinying
Li, Xiaozhong
author_facet Jiang, Lu
Hu, Xiaohan
Lin, Qiang
Chen, Ruyue
Shen, Yunyan
Zhu, Yun
Xu, Qinying
Li, Xiaozhong
author_sort Jiang, Lu
collection PubMed
description BACKGROUND: Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ catalytic p110δ (PIK3CD). APDS1 has a spectrum of clinical manifestations. Recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, hyper-IgM syndrome and autoimmunity are the common symptoms of this disease. CASE PRESENTATION: Patient 1 presented with recurrent respiratory infections, hepatosplenomegaly and hyper-IgM syndrome. Patient 2 developed early onset systemic lupus erythematosus (SLE)-like disease with resistant thrombocytopenia. c.3061 G > A and c.2314G > A variants in the PIK3CD gene were detected by whole exome sequencing in two patients respectively. c.2314G > A variant in PIK3CD gene of patient 2 is a newly report. After genetic diagnosis, two patients received sirolimus treatment and sirolimus alleviated clinical manifestations, including hepatosplenomegaly in patient 1 and thrombocytopenia in patient 2. CONCLUSION: Genetics diagnosis should be considered in patients with complicated clinical manifestations with no or insufficient response to the conventional therapies. If whole exome sequencing suggests a variant in PIK3CD gene, sirolimus may relieve hepatosplenomegaly and resistant thrombocytopenia. This is the first report of c.2314G > A variant in PIK3CD gene. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13223-023-00840-0.
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spelling pubmed-105181152023-09-25 Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1 Jiang, Lu Hu, Xiaohan Lin, Qiang Chen, Ruyue Shen, Yunyan Zhu, Yun Xu, Qinying Li, Xiaozhong Allergy Asthma Clin Immunol Case Report BACKGROUND: Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ catalytic p110δ (PIK3CD). APDS1 has a spectrum of clinical manifestations. Recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, hyper-IgM syndrome and autoimmunity are the common symptoms of this disease. CASE PRESENTATION: Patient 1 presented with recurrent respiratory infections, hepatosplenomegaly and hyper-IgM syndrome. Patient 2 developed early onset systemic lupus erythematosus (SLE)-like disease with resistant thrombocytopenia. c.3061 G > A and c.2314G > A variants in the PIK3CD gene were detected by whole exome sequencing in two patients respectively. c.2314G > A variant in PIK3CD gene of patient 2 is a newly report. After genetic diagnosis, two patients received sirolimus treatment and sirolimus alleviated clinical manifestations, including hepatosplenomegaly in patient 1 and thrombocytopenia in patient 2. CONCLUSION: Genetics diagnosis should be considered in patients with complicated clinical manifestations with no or insufficient response to the conventional therapies. If whole exome sequencing suggests a variant in PIK3CD gene, sirolimus may relieve hepatosplenomegaly and resistant thrombocytopenia. This is the first report of c.2314G > A variant in PIK3CD gene. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13223-023-00840-0. BioMed Central 2023-09-23 /pmc/articles/PMC10518115/ /pubmed/37742016 http://dx.doi.org/10.1186/s13223-023-00840-0 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Jiang, Lu
Hu, Xiaohan
Lin, Qiang
Chen, Ruyue
Shen, Yunyan
Zhu, Yun
Xu, Qinying
Li, Xiaozhong
Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
title Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
title_full Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
title_fullStr Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
title_full_unstemmed Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
title_short Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
title_sort two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10518115/
https://www.ncbi.nlm.nih.gov/pubmed/37742016
http://dx.doi.org/10.1186/s13223-023-00840-0
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