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Diagnosis of HLH: two siblings, two distinct genetic causes
Claire Escaron1, Elizabeth Ralph1, Shahnaz Bibi2
1Immunology Laboratory, Great Ormond Street Hospital, London, UK.
Abstract:
This report highlights case of two siblings who developed haemophagocytic lymphohystiocytosis due to distinct genetic abnormalities. Though their presentation was clinically similar, the cases demonstrate that a shared genetic diagnosis among siblings cannot be assumed.
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