Background: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Familial HLH (fHLH) is an autosomal recessive disease.
Methods: We report a case of fHLH in a 45-day-old Chinese female infant presenting with fever, hepatosplenomegaly, and pancytopenia. Typical laboratory findings were detected for the infant, and fHLH was diagnosed according to the HLH-2004 guidelines. The infant was initially treated with antibiotics and ganciclovir prior to diagnosis of HLH. No response to glucocorticoid and intravenous immunoglobulin treatment was observed, and the infant died of disseminated intravascular coagulation.
Results: A mutation in the perforin gene was identified in this patient. Direct sequencing analysis revealed a deleterious homozygous mutation of PRF1, c.65delC [p.P22Rfs*29], and her parents were heterozygous carriers of the mutant alleles.
Conclusions: Therefore, familial HLH is still a potentially lethal childhood illness, and appropriate individualized therapies, including cell therapy and gene targeting therapy, need to be established.