🧬 New in Blood Advances!
We analyzed ~500K UK Biobank participants to test whether digenic heterozygous FHL variants increase HLH risk. They don't. Present in ~0.1% but clinically silent - relevant for genetic counseling & newborn screening.
@ukbiobank.ac.uk
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Digenic and Multigenic Heterozygous FHL Genotypes Are Common but Clinically Silent in the General Population
Primary hemophagocytic lymphohistiocytosis is mainly caused by biallelic variants in genes disrupting cytotoxic NK- and T-cell function (PRF1, UNC13D,…
