A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.

3 The novel I PRF1 i variant (K285Sfs*4) causes very early-onset of Familial Hemophagocytic Lymphohystiocytosis type 2. 4 I PRF1 i disruptive mutations are associated with early-onset of hemophagocytic lymphohistiocytosis. Five FHL (FHL 1-5) subtypes have been identified.[1] Depending on ethnic origin,[2] variants in the I PRF1 i gene (FHL2) account for almost half of the FHL cases. Patients with at least one disruptive variant developed the disease at a significantly younger age than patients bearing non-disruptive variants.[6] Last, despite being considered a polymorphism (allele frequency 4-17%), A91V is not neutral. [Extracted from the article]
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