| Autor: |
Jing-jing Lin, Xu-hui Liu, Lu Xia, Yan-ling Feng, Xiu-hong Xi, Shui-hua Lu |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2431 |
| DOI: |
10.1186/s12887-021-02671-7 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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