BMJ case reportsHumansInfantNewbornHematopoietic Stem Cell TransplantationLymphohistiocytosis
Early-onset familial HLH due to PRF1 mutation: diagnostic and therapeutic challenges in a resource-limited setting.
Kajal Patel, Mritunjay Kumar, Vinita Paswan, Bimlesh Prasad
Published: 202510.1136/bcr-2025-266676
Abstract
Familial haemophagocytic lymphohistiocytosis (FHL) is a rare, autosomal recessive immune dysregulation disorder characterised by uncontrolled T-cell and macrophage activation, leading to life-threatening cytokine storm and multi-organ involvement. FL…
Preview only. Read the full abstract at the source