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Evaluate the connection between BCOR mutations and immune dysregulation in HLH cases with significant autoimmune histories.

December 8, 2025Blood

Unmasking HLH: A BCOR mutation as the hidden driver of immune dysregulation and fulminant hepatic failure

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Case reveals clonal hematopoiesis drives immune dysregulation and fulminant hepatic failure in HLH patients, suggesting complex pathogenesis.

Evaluate the connection between BCOR mutations and immune dysregulation in HLH cases with significant autoimmune histories.
Detailed case presentation of a 64-year-old female with autoimmune enteropathy and HLH symptoms.
Diagnostic criteria met included hyperferritinemia and elevated cytokines evaluated through medical imaging and biopsies.
Pathogenic mutations identified through next-generation sequencing of bone marrow samples.
Patient met five HLH-2004 diagnostic criteria; liver lesions identified upon imaging.
Response to treatment included dexamethasone and etoposide, but complications arose during therapy.
Progression to fulminant hepatic failure occurred despite resuming treatment, and patient ultimately died.

Motkur et al. (2025) studied this question.

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December 8, 2025Blood

View Full Paper

Ask AI

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Authors

Case reveals clonal hematopoiesis drives immune dysregulation and fulminant hepatic failure in HLH patients, suggesting complex pathogenesis.

Evaluate the connection between BCOR mutations and immune dysregulation in HLH cases with significant autoimmune histories.
Detailed case presentation of a 64-year-old female with autoimmune enteropathy and HLH symptoms.
Diagnostic criteria met included hyperferritinemia and elevated cytokines evaluated through medical imaging and biopsies.
Pathogenic mutations identified through next-generation sequencing of bone marrow samples.
Patient met five HLH-2004 diagnostic criteria; liver lesions identified upon imaging.
Response to treatment included dexamethasone and etoposide, but complications arose during therapy.
Progression to fulminant hepatic failure occurred despite resuming treatment, and patient ultimately died.

Motkur et al. (2025) studied this question.

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