ReviewHemophagocytic lymphohistiocytosis and primary immune deficiency disorders

•HLH occurs infrequently among patients with primary immune deficiency.•The prognosis of patients suffering from primary immune deficiency and HLH is poor.•It is important to establish the diagnosis of primary immune deficiency in HLH.•Initiating appropriate management for HLH and primary immune deficiency is critical.

Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled immune activation and is traditionally associated with inherited gene defects or acquired causes. In addition to abnormalities in cytotoxic granules and lysosomes, various primary immune deficiency disorders (PID) have been identified among patients suffering from HLH. Our purpose was twofold: to better characterize and detail the association between PID and HLH.We found that HLH occurs infrequently among patients with PID, particularly those suffering from abnormalities that impair T cell function. The prognosis of patients suffering from PID and HLH is poor, emphasizing the need for rapid clinical and genetic diagnosis of the PID as well as initiation of appropriate management of the HLH, including allogeneic hematopoietic stem cell transplantations.The association of HLH and PID implicates abnormal T cell function as an important factor in HLH development. It also suggests that the partition of HLH into genetic versus acquired forms might be misleading.