Background Familial hemophagocytic lymphohistiocyosis is a severe inflammatory condition due to genetic defect in cytotoxic activity (e.a. :perforin). This disease is similar to the macrophage activated syndrome (MAS). In this disorder cytotoxic CD8 lymphocytes are highly proliferating due in part to a cytokine storm condition (IFNg mediated). In this inflammatory climate macrophages gets activ...

Disseminated histoplasmosis and hemophagocytic lymphohistiocytosis show overlapping features, which require careful contextual interpretation. Histopathologic evaluation can potentially rapidly identify cases of possible histoplasmosis. A high index of clinical suspicion, particularly in endemic areas and in a setting of immunosuppression, is critical to appropriate diagnosis and treatment.

We report a case of a previously well nine-month-old infant who presented with prolonged fever, hepatosplenomegaly and pancytopenia. A diagnosis of haemophagocytic lymphohistiocytosis (HLH) was made during the course of hospital admission. There was good initial response to dexamethasone but the patient died less than two months after diagnosis. This is the first report of HLH from Ghana. The d...

Macrophage activation syndrome (MAS) is a severe, potentially fatal condition that may complicate autoimmune diseases, and it belongs to hemophagocytic lymphohistiocytosis (HLH) disorders. MAS occurs in adults and children. However, it is rare in juvenile systemic lupus erythematosus (jSLE), and it is extremely rare to be the initial presentation of jSLE. Here, we report two patients with juven...

We report a case of several autoimmune disorders eventually presenting as severe multi organ dysfunction syndrome caused by adult hemophagocytic lymphohistiocytosis (HLH). Clinical and laboratory tests might lead to fatal misinterpretation without awareness of its diagnostic evaluation, as HLH shares common features with sepsis and immune-mediated systemic inflammatory response syndromes.

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of excessive immune activation causing widespread inflammation and tissue destruction leading to multi-organ dysfunction and failure. Making the diagnosis of HLH could be quite challenging due to the broad range of presenting symptoms and their lack of specificity. After ruling out considerations for differential diagnoses, recognizing the ...

Hemophagocytic syndrome (HS) or hemophagocytic lymphohistiocytosis (HLH) is an immune mediated phenomenon that can occur in the setting of an autoimmune disease, chronic immunosuppression, malignancy, or infection. It has been more commonly described in the pediatric population and less commonly in adults. We describe a case of a 52-year-old male who presented with a rash. He simultaneously met...

Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child. Unfortunately, these clinical findings are also noted in other childhood lymphoproliferative conditions, such as leukemia,...

Mutations in the perforin gene (PRF1) are a common cause of the fatal immune dysregulation disorder, familial hemophagocytic lymphohistiocytosis (type 2 FHL, FHL2). Here we report a female infant born with biallelic PRF1 mutations: a novel substitution, D49N, and a previously identified in-frame deletion, K285del. We assessed the effects of each mutation on the cytotoxicity of human NK cells in...