Case report reveals pathogenic BCOR mutation and immune dysregulation in a woman with HLH and abdominal pain, suggesting complex interactions with clonal hematopoiesis.
Key Points
This report aims to elucidate the role of BCOR mutation in hemophagocytic lymphohistiocytosis (HLH).
Case presentation of a 64-year-old woman with autoimmune enteropathy and HLH symptoms.
Diagnostic criteria met included hyperferritinemia and elevated soluble IL-2 receptor.
Next-generation sequencing was used to identify a pathogenic mutation in BCOR.
Patient progressed to fulminant hepatic failure despite treatment including dexamethasone and etoposide.
Hypocellular marrow and significant pancytopenia were observed.
Presence of CXCL9 and cytokine storms indicated severe immune dysregulation.