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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Detalles Bibliográficos
Publicado en:BMJ Case Rep
Autores principales: Urriola, Nicolás, Williams, Andrew, Keat, Karuna
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2019
Materias:
Rare Disease
Acceso en línea: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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