Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined inborn error of immunity mainly caused by PIK3CD mutations. We herein describe a 4-year-old Chinese boy who was admitted for recurrent pneumonia and persistent hematuria and exhibited multisystem involvement and anti-neutrophil...

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Autores principales: Zhang, Xiaojing, Wang, Jingjing, Zhu, Kun, Jin, Yanyan, Fu, Haidong, Mao, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8755648/
https://www.ncbi.nlm.nih.gov/pubmed/34039074
http://dx.doi.org/10.1177/03000605211013222
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author Zhang, Xiaojing
Wang, Jingjing
Zhu, Kun
Jin, Yanyan
Fu, Haidong
Mao, Jianhua
author_facet Zhang, Xiaojing
Wang, Jingjing
Zhu, Kun
Jin, Yanyan
Fu, Haidong
Mao, Jianhua
author_sort Zhang, Xiaojing
collection PubMed
description Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined inborn error of immunity mainly caused by PIK3CD mutations. We herein describe a 4-year-old Chinese boy who was admitted for recurrent pneumonia and persistent hematuria and exhibited multisystem involvement and anti-neutrophil cytoplasmic antibody (ANCA) positivity. He was initially diagnosed with ANCA-associated vasculitis. However, genetic testing revealed a c.1574A>G PIK3CD mutation, resulting in a diagnosis of APDS1.
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spelling pubmed-87556482022-01-14 Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report Zhang, Xiaojing Wang, Jingjing Zhu, Kun Jin, Yanyan Fu, Haidong Mao, Jianhua J Int Med Res Case Reports Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined inborn error of immunity mainly caused by PIK3CD mutations. We herein describe a 4-year-old Chinese boy who was admitted for recurrent pneumonia and persistent hematuria and exhibited multisystem involvement and anti-neutrophil cytoplasmic antibody (ANCA) positivity. He was initially diagnosed with ANCA-associated vasculitis. However, genetic testing revealed a c.1574A>G PIK3CD mutation, resulting in a diagnosis of APDS1. SAGE Publications 2021-05-26 /pmc/articles/PMC8755648/ /pubmed/34039074 http://dx.doi.org/10.1177/03000605211013222 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Reports
Zhang, Xiaojing
Wang, Jingjing
Zhu, Kun
Jin, Yanyan
Fu, Haidong
Mao, Jianhua
Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
title Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
title_full Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
title_fullStr Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
title_full_unstemmed Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
title_short Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
title_sort activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8755648/
https://www.ncbi.nlm.nih.gov/pubmed/34039074
http://dx.doi.org/10.1177/03000605211013222
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