A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis

BACKGROUND: Niemann-Pick C disease is a rare autosomal recessive lysosomal lipid storage disorder. Some primary immunodeficiency diseases patients developed regional disease or disseminated disease after vaccinating BCG. It is unclear whether NPC gene deficiency is associated with Mycobacteria infec...

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Autores principales: Lin, Jing-jing, Liu, Xu-hui, Xia, Lu, Feng, Yan-ling, Xi, Xiu-hong, Lu, Shui-hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8094597/
https://www.ncbi.nlm.nih.gov/pubmed/33947371
http://dx.doi.org/10.1186/s12887-021-02671-7
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author Lin, Jing-jing
Liu, Xu-hui
Xia, Lu
Feng, Yan-ling
Xi, Xiu-hong
Lu, Shui-hua
author_facet Lin, Jing-jing
Liu, Xu-hui
Xia, Lu
Feng, Yan-ling
Xi, Xiu-hong
Lu, Shui-hua
author_sort Lin, Jing-jing
collection PubMed
description BACKGROUND: Niemann-Pick C disease is a rare autosomal recessive lysosomal lipid storage disorder. Some primary immunodeficiency diseases patients developed regional disease or disseminated disease after vaccinating BCG. It is unclear whether NPC gene deficiency is associated with Mycobacteria infection. CASE PRESENTATION: We report and discuss a case of a child who presented at the age of 6 months with NPC1 and BCG-itis. The patient was treated with Miglustat and the symptom of lymphadenopathy was improved. CONCLUSIONS: We reasonably speculate that NPC1 is a susceptibility gene of Mtb infection and mainly affects innate immunity. Once diagnosed, the infant should not be vaccinated with BCG and early treated.
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spelling pubmed-80945972021-05-05 A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis Lin, Jing-jing Liu, Xu-hui Xia, Lu Feng, Yan-ling Xi, Xiu-hong Lu, Shui-hua BMC Pediatr Case Report BACKGROUND: Niemann-Pick C disease is a rare autosomal recessive lysosomal lipid storage disorder. Some primary immunodeficiency diseases patients developed regional disease or disseminated disease after vaccinating BCG. It is unclear whether NPC gene deficiency is associated with Mycobacteria infection. CASE PRESENTATION: We report and discuss a case of a child who presented at the age of 6 months with NPC1 and BCG-itis. The patient was treated with Miglustat and the symptom of lymphadenopathy was improved. CONCLUSIONS: We reasonably speculate that NPC1 is a susceptibility gene of Mtb infection and mainly affects innate immunity. Once diagnosed, the infant should not be vaccinated with BCG and early treated. BioMed Central 2021-05-04 /pmc/articles/PMC8094597/ /pubmed/33947371 http://dx.doi.org/10.1186/s12887-021-02671-7 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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
Lin, Jing-jing
Liu, Xu-hui
Xia, Lu
Feng, Yan-ling
Xi, Xiu-hong
Lu, Shui-hua
A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
title A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
title_full A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
title_fullStr A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
title_full_unstemmed A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
title_short A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
title_sort niemann‐pick c1 disease child with bcg-itis: a case report and analysis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8094597/
https://www.ncbi.nlm.nih.gov/pubmed/33947371
http://dx.doi.org/10.1186/s12887-021-02671-7
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