Cunill V, Molina-Fuentes A, Jimenez MR, Iglesias J, Estevez M, Daza-Cajigal V, Gual C, Ballester C, Duran MA and Martinez-Pomar N*
Volume3-Issue7
Dates: Received: 2022-07-05 | Accepted: 2022-07-19 | Published: 2022-07-23
Pages: 797-801
Abstract
Biallelic mutations in several genes associated with cytotoxic lymphocytes function has been related to Familial HLH (FHLH). The clinical presentation of primary and acquired HLH may be indistinguishable, and both forms are commonly triggered by infections. FHLH is well described in children but in the last decade several late-onset cases have been reported.
We report the clinical and immunological characteristics of two adult patients carrying a single variant in Perforin-1. Patient-1, p.A91V carrier, was diagnosed of B-cell Chronic Lymphocytic Leukemia (CLL) and suffered leishmaniosis with severe progression of HLH disease that leads to death. Patient-2, carrier of p.R4H, suffered two HLH episodes in the context of HIV infection. The severity and the recurrence of the disease may suggest that these single PRF1 variants could predispose to immune-mediated disease.
Future studies are needed to understand the role of these variants in the development of the disease.
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DOI: 10.37871/jbres1516
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© 2022 Cunill V, et al. Distributed under Creative Commons CC-BY 4.0 
How to cite this article
Cunill V, Molina-Fuentes A, Jiménez MR, Iglesias J, Estevez M, Daza-Cajigal V, Gual C, Ballester C, Durán MA, Martínez-Pomar N. A Single Amino Acid Change in Perforin-1: Two Patients with Severe and Recurrent HLH. J Biomed Res Environ Sci. 2022 July 23; 3(7): 797-801. doi: 10.37871/jbres1516, Article ID: JBRES1516, Available at: https://www.jelsciences.com/articles/jbres1516.pdf
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