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

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-7Ralpha mutations. We report a novel mutation of the IL-7Ralpha 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-7Ralpha mutations in SCID patients with diminished T-cell numbers but normal numbers of B-cells and NK cells.

• Authors: Eun-Kyeong Jo, Hoon Kook, Toru Uchiyama, Ikuko Hakozaki, Young-Ok Kim, Chang-Hwa Song, Jeong-kyu Park, Hirokazu Kanegane, Shigeru Tsuchiya, Satoru Kumaki
• Journal: International journal of hematology (Int J Hematol) Vol. 80 Issue 4 Pg. 332-5 (Nov 2004) ISSN: 0925-5710 [Print] Japan
• PMID: 15615257 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon, Nonsense
• Receptors, Interleukin-7
• interleukin-7 receptor, alpha chain

Topics

• Adult
• Codon, Nonsense
• Female
• Humans
• Infant
• Korea
• Male
• Receptors, Interleukin-7 (genetics)
• Severe Combined Immunodeficiency (genetics, immunology)