Chronic granulomatous disease (CGD) is an inherited defect in components of the NADPH oxidase complex that result in a potential life-threatening infective and non-infective complications. Hemophagocytic lymphohistiocytosis (HLH) is an unusual but important inflammatory complication of CGD. Optimal management strategies have not yet been identified in children with CGD who develop HLH.
To analyse clinical and laboratory features of HLH in CGD from a tertiary-care centre in North India.
A retrospective review of medical records of children with CGD diagnosed in last 20 years was performed. Clinical and laboratory features of children with CGD who developed HLH were analysed.
Out of 80 patients diagnosed with CGD, 5 (6.25%) had evidence of HLH. All 5 were males; Four (4) had X-linked CGD and one had autosomal recessive CGD (NCF2 defect). Two (2) children with CGD had HLH as the predominant presenting manifestation mimicking the clinical presentation of congenital HLH. Infectious trigger identified were- bloodstream infections (n=3) (Candida albicans, Burkholderia cenocepacia, Francisella noatuensis), pneumonia (n=4), and splenic abscess (n=1). We document the first human infection with a fish pathogen- F. noatuensis in a child with X-linked CGD. While mortality was seen in 3 children who received only intravenous immunoglobulin therapy, the other 2 who received IV methylprednisolone pulse therapy survived.
HLH can be a presenting manifestation of CGD and workup for CGD must be considered in children with HLH. Early recognition with optimal management of both infectious trigger and HLH is very important to prevent mortality.

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