Hemophagocytic lymphohistiocytosis (HLH) is a rare, severe, and often fatal disorder. Its hereditary and sporadic form can present as a significant diagnostic challenge to the otolaryngologist. This report describes two fatal cases of adult patients with HLH initially presented as infectious mononucleosis to an otorhinolaryngologist. The clinical presentation, serological and histological featu...

Mutations of familial hemophagocytic lymphohistiocytosis (FHL) related genes and abnormalities of cytotoxicity function tests in patients with macrophage activation syndrome (MAS) occurring in systemic juvenile idiopathic arthritis (sJIA) Claudia Bracaglia, Elena Sieni, Martina Da Ros, Carmela De Fusco, Concetta Micalizzi, Valentina Cetica, Benedetta Ciambotti, Maria Luisa Coniglio, Antonella I...

An 18-month-old boy presented with fever, hepatosplenomegaly, jaundice, pancytopenia, hyperferritinemia, hypertriglyceridemia and evidence of hemophagocytosis and trilineage myelodysplasia in the bone marrow aspiration. Appropriate treatment was begun but he died after 12 hours of hospitalization due to Gram-negative septicemia. Post-mortem examination of liver biopsy revealed diffuse hemaphago...

Haemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease of normal but overactive histiocytes and lymphocytes that commonly appears in infancy, although it has been seen in all age groups. We are reporting a series of 5 cases of HLH in young adult and paediatric patients identified over three years.

Several rare human diseases have shed important light on the secretory pathway required for lymphocyte cytotoxicity. In this issue of Cell, Feldmann et al. identify mutations in Munc13-4 as a cause of familial hemophagocytic lymphohistiocytosis. Munc13-4 appears to be involved in the priming of cytotoxic granules prior to fusion with the plasma membrane.

Hemophagocytic lymphohistiocytosis (HLH) and rhabdomyolysis are rare complications of typhoid fever from Salmonella enterica serovar Typhi. Herein, we describe the clinical features in a 21-year-old female from India who presented to the intensive care unit with fever, severe pancytopenia, and rhabdomyolysis.

We present a case of a 4.5-month-old boy from Turkey with hemophagocytic lymphohistiocytosis (HLH) associated with H1N1 virus and Leishmania spp. coinfection. Because visceral leishmaniasis can mimic hematologic disorders like HLH, it is important to rule out this clinical condition before starting immunosuppressive therapy. In our case, treatment with liposomal amphotericin B resulted in a dra...

Hemophagocytic lymphohistiocytosis (HLH) and newly diagnosed malignant infiltration of liver are rare presentations of acute liver failure associated with poor prognosis. We report a case of a patient with acute liver failure caused by malignant infiltration by diffuse large B-cell lymphoma and secondary HLH.