抄録
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.
本文言語 | English |
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ページ(範囲) | 332-335 |
ページ数 | 4 |
ジャーナル | International journal of hematology |
巻 | 80 |
号 | 4 |
DOI | |
出版ステータス | Published - 2004 11月 |
ASJC Scopus subject areas
- 血液学