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BMC Pediatrics

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Open Access 01-12-2021 | Primary Immunodeficiency | Case report

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

Authors: Jing-jing Lin, Xu-hui Liu, Lu Xia, Yan-ling Feng, Xiu-hong Xi, Shui-hua Lu

Published in: BMC Pediatrics | Issue 1/2021

Abstract

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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Title: A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
Authors: Jing-jing Lin
Xu-hui Liu
Lu Xia
Yan-ling Feng
Xiu-hong Xi
Shui-hua Lu
Publication date: 01-12-2021
Publisher: BioMed Central
Keyword: Primary Immunodeficiency
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02671-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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