Inborn Errors Working Party (IEWP)
Upcoming study announcement: natural history and HSCT outcome of patients with FHL2 and FHL3
Dear IEWP members,
Soon there will be a retrospective study describing the natural history and HSCT outcome of patients with FHL2 and FHL3. Please await study initiation but be prepared to enter your patients via the ESID and EBMT registries.
• Biallelic mutation in perforin or UNC13D and clinical history of HLH or atypical/CNS HLH or lymphoma OR
• Biallelic mutation in perforin or UNC13D and demonstration of functional relevance by studies on perforin expression/degranulation AND
• Initial diagnosis between 2010 and 2020
PIs: Stephan Ehl, Despina Moshous, Claire Booth, Sujal Gosh