Analyses of the prf1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in colombian unrelated families associated with late onset disease

Isaura P. Sánchez*, Lucía C. Leal-Esteban, Jesús A. Álvarez-Álvarez, Camilo A. Pérez-Romero, Julio C. Orrego, Malyive L. Serna, Yadira Coll, Yolanda Caicedo, Edwin Pardo-Díaz, Jacques Zimmer, Jack J. Bleesing, José L. Franco, Claudia M. Trujillo-Vargas

*Corresponding author for this work

    Research output: Contribution to journalArticleResearchpeer-review

    9 Citations (Scopus)

    Abstract

    Familial hemophagocytic lymphohistiocytosis (FHL), is a rare autosomal recessive disorder characterized by an impairment of cytotoxic cells and uncontrolled activation of macrophages. This study presents the first description of four patients with FHL type 2 in Latin America. Patient 1 fulfilled the disease diagnostic criteria since 2 months of age, whereas patients 2, 3 and 4 exhibited the typical manifestations of the disease only later in their childhood. The PRF1 genetic analysis in these patients revealed two previously reported mutations: L17fsx50 and R54C. Interestingly, seven out of the 8 alleles evaluated here in patients carried the haplotype R54C/A91V, suggesting that this is a highly frequent FHL type 2 allele in Colombia. This haplotype confers residual cytotoxic function leading to late onset disease. Therefore, this report highlights the remarkable complexity of FHL diagnostic, emphasizing the importance of the genetic characterization of the disease.

    Original languageEnglish
    Pages (from-to)670-680
    Number of pages11
    JournalJournal of Clinical Immunology
    Volume32
    Issue number4
    DOIs
    Publication statusPublished - Aug 2012

    Keywords

    • Familial hemophagocytic lymphohistiocytosis type 2
    • NK cells
    • PRF1 gene
    • Perforin

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