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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
  1. Nicolás Urriola1,
  2. Andrew Williams2 and
  3. Karuna Keat1
  1. 1 Immunology, Campbelltown Hospital, Campbelltown, New South Wales, Australia
  2. 2 Immunopathology, Children’s Hospital at Westmead, Westmead, New South Wales, Australia
  1. Correspondence to Dr Nicolás Urriola, nicolas.urriola{at}


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)/haemophagocytic lymphohistiocytosis (HLH) secondary to Burkholderiacepacia complex septicaemia that was successfully treated with a combination of three antibiotics, an antifungal, granulocyte colony stimulating factor, intravenous immune globulin (IVIG) and ciclosporin. Fully phenotypic immunodeficiency is possible in X-linked CGD carriers when skewed lyonisation occurs, rendering such patients to all the same sequelae of CGD such as MAS/HLH. MAS/HLH should be thoroughly excluded when evaluating ‘cepacia syndrome’ in non-CGD patients.

  • immunology
  • pneumonia (respiratory medicine)

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  • Contributors NU acted as the main author. KK provided editorial assistance and review. AW was responsible for CYBB gene sequencing validation and performance/interpretation of all neutrophil function testing.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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