Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.
Comprehensive, easy-to-understand information about this condition
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Chediak-Higashi syndrome
MONDO:0008963
familial hemophagocytic lymphohistiocytosis type 1
MONDO:0009974
familial hemophagocytic lymphohistiocytosis 4
MONDO:0011336
Griscelli syndrome type 2
MONDO:0011872
Hermansky-Pudlak syndrome 2
MONDO:0011997
familial hemophagocytic lymphohistiocytosis 3
MONDO:0012146