A Single Amino Acid Change in Perforin-1: Two Patients with Severe and Recurrent HLH

Biallelic mutations in several genes associated with cytotoxic lymphocytes function has been related to Familial HLH (FHLH). The clinical presentation of primary and acquired may be indistinguishable, both forms are commonly triggered by infections. FHLH is well described children but the last decade late-onset cases have reported. We report immunological characteristics two adult patients carrying a single variant Perforin-1. Patient-1, p.A91V carrier, was diagnosed B-cell Chronic Lymphocytic Leukemia (CLL) suffered leishmaniosis severe progression disease that leads death. Patient-2, carrier p.R4H, episodes context HIV infection. severity recurrence suggest these PRF1 variants could predispose immune-mediated disease. Future studies needed understand role development