Characterization of a novel nonsense mutation in the interleukin-7 receptor α gene in a Korean patient with severe combined immunodeficiency

Eun Kyeong Jo, Hoon Kook, Toru Uchiyama, Ikuko Hakozaki, Young Ok Kim, Chang Hwa Song, Jeong Kyu Park, Hirokazu Kanegane, Shigeru Tsuchiya, Satoru Kumaki

    Research output: Contribution to journalReview articlepeer-review

    8 Citations (Scopus)

    Abstract

    Although it has been suggested that defective interleukin 7 receptor (IL-7R) signaling is one of the principal causes of severe combined immunodeficiency disease (SCID) in mice and humans, little is known about the molecular and clinical characteristics of human IL-7Rα mutations. We report a novel mutation of the IL-7Rα gene in a Korean SCID patient with a greatly diminished T-cell count but normal numbers of B-cells and natural killer (NK) cells. Using direct sequencing and restriction fragment length polymorphism analysis, we identified a C→T nucleotide change at position 638. This change resulted in a nonsense mutation (R206stop) in this patient. Both parents were heterozygous for C/T at this site. The results of this study emphasize the importance of characterization of IL-7Rα mutations in SCID patients with diminished T-cell numbers but normal numbers of B-cells and NK cells.

    Original languageEnglish
    Pages (from-to)332-335
    Number of pages4
    JournalInternational journal of hematology
    Volume80
    Issue number4
    DOIs
    Publication statusPublished - 2004 Nov 1

    Keywords

    • IL-7 receptor α chain
    • Korean
    • Mutation
    • Severe combined immunodeficiency

    ASJC Scopus subject areas

    • Hematology

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