Macrophage activation syndrome/haemophagocytic lymphohistiocytosis secondary toBurkholderia cepaciacomplex septicaemia in an elderly female carrier of X-linked chronic granulomatous disease with extreme lyonisation: ‘cepacia syndrome’ revisited

Abstract

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.

Haemophagocytic lymphohistiocytosis due to Burkholderia pseudomallei in a primigravida

“…The development of secondary HLH in infections may be due to an inability to suppress or clear intracellular infections resulting in persistent activation of antigen presenting cells and CD8(+) T cells and increased production of cytokines. Secondary HLH is a potentially fatal complication of Burkholderia cepacia infection and has been reported in patients with chronic granulomatous disease [1, 2]. There are very few reported cases of HLH due to Burkholderia pseudomallei [3].…”