A patient with Chronic Granulomatous Disease (CGD) may be at risk for episodes resembling Hemophagocytic Lymphohistiocytosis (HLH).

Pathogenesis: prolonged and dysregulated inflammation resulting in unrestrained inflammation caused by T cells and macrophages.


Trigger: bacterial or fungal infection


Clinical features:

(1) high fever

(2) systemic inflammatory response syndrome (SIRS)

(3) hepatosplenomegaly

(4) hematophagocytosis in bone marrow and other organs


Laboratory findings:

(1) one or more cytopenias

(2) hyperferritinemia > 500 µg/L

(3) elevated soluble IL-2R (CD25)

(4) hypofibrinogenemia


Differential diagnosis:

(1) sepsis


It is important to treat the infection aggressively to remove the trigger for the reaction.

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