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Macrophage activation syndrome/haemophagocytic lymphohistiocytosis secondary to Burkholderia cepacia complex septicaemia in an elderly female carrier of X-linked chronic granulomatous disease with extreme lyonisation: ‘cepacia syndrome’ revisited
X-linked carriers of chronic granulomatous disease (CGD) may become phenotypically affected if substantial skewing from lyonisation occurs. We describe a 73-year-old female carrier with an overt CGD phenotype due to skewed lyonisation, complicated by macrophage activation syndrome (MAS)/haemophagocy...
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| Wydane w: | BMJ Case Rep |
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| Główni autorzy: | , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Publishing Group
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6720641/ https://ncbi.nlm.nih.gov/pubmed/31473638 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-230434 |
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