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

• Published in: BMJ case reports Vol. 12; no. 8; p. e230434
• Main Authors: Urriola, Nicolás, Williams, Andrew, Keat, Karuna
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.08.2019; BMJ Publishing Group
• Series: Case Report
• Subjects: Acute Disease; Aged; Antibiotics; Antifungal agents; Bone marrow; Burkholderia cepacia complex; Burkholderia Infections - complications; Burkholderia Infections - genetics; Burkholderia Infections - microbiology; Case reports; Chromosomes; Cystic fibrosis; Cysts; Female; Granulomatous Disease, Chronic - genetics; Granulomatous Disease, Chronic - microbiology; Humans; Infections; Lymphohistiocytosis, Hemophagocytic - genetics; Lymphohistiocytosis, Hemophagocytic - microbiology; Macrophage Activation Syndrome - genetics; Macrophage Activation Syndrome - microbiology; Mutation; Neutrophils; Pathogens; Pneumonia; Rare Disease; Sepsis; Sepsis - genetics; Sepsis - microbiology; Syndrome; X Chromosome Inactivation; immunology; pneumonia (respiratory medicine)
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2019-230434

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.