PMID- 15615257
OWN - NLM
STAT- MEDLINE
DCOM- 20050124
LR  - 20191026
IS  - 0925-5710 (Print)
IS  - 0925-5710 (Linking)
VI  - 80
IP  - 4
DP  - 2004 Nov
TI  - Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha 
      gene in a Korean patient with severe combined immunodeficiency.
PG  - 332-5
AB  - 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.
FAU - Jo, Eun-Kyeong
AU  - Jo EK
AD  - Department of Microbiology, College of Medicine, Chungnam National University, 
      Daejeon, Korea.
FAU - Kook, Hoon
AU  - Kook H
FAU - Uchiyama, Toru
AU  - Uchiyama T
FAU - Hakozaki, Ikuko
AU  - Hakozaki I
FAU - Kim, Young-Ok
AU  - Kim YO
FAU - Song, Chang-Hwa
AU  - Song CH
FAU - Park, Jeong-kyu
AU  - Park JK
FAU - Kanegane, Hirokazu
AU  - Kanegane H
FAU - Tsuchiya, Shigeru
AU  - Tsuchiya S
FAU - Kumaki, Satoru
AU  - Kumaki S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Japan
TA  - Int J Hematol
JT  - International journal of hematology
JID - 9111627
RN  - 0 (Codon, Nonsense)
RN  - 0 (Receptors, Interleukin-7)
RN  - 0 (interleukin-7 receptor, alpha chain)
SB  - IM
MH  - Adult
MH  - *Codon, Nonsense
MH  - Female
MH  - Humans
MH  - Infant
MH  - Korea
MH  - Male
MH  - Receptors, Interleukin-7/*genetics
MH  - Severe Combined Immunodeficiency/*genetics/immunology
EDAT- 2004/12/24 09:00
MHDA- 2005/01/26 09:00
CRDT- 2004/12/24 09:00
PHST- 2004/12/24 09:00 [pubmed]
PHST- 2005/01/26 09:00 [medline]
PHST- 2004/12/24 09:00 [entrez]
AID - 10.1532/ijh97.04026 [doi]
PST - ppublish
SO  - Int J Hematol. 2004 Nov;80(4):332-5. doi: 10.1532/ijh97.04026.