Characterization of a Novel Nonsense Mutation in the Interleukin-7 Receptor α Gene in a Korean Patient with Severe Combined Immunodeficiency View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2004-11

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

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. More... »

PAGES

332-335

Identifiers

URI

http://scigraph.springernature.com/pub.10.1532/ijh97.04026

DOI

http://dx.doi.org/10.1532/ijh97.04026

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045846896

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15615257


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