Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis.
Malik P et al.
Ajnr. American Journal of Neuroradiology, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
Dias C et al.
European Journal of Human Genetics : Ejhg, 2013
Near fatal cerebellar swelling in familial hemophagocytic lymphohistiocytosis.
Astigarraga I et al.
Pediatric Neurology, 2004
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