X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling.
10.3346/jkms.2004.19.1.123
- Author:
Eun Kyeong JO
1
;
Satoru KUMAKI
;
Du WEI
;
Shigeru TSUCHIYA
;
Hirokazu KANEGANE
;
Chang Hwa SONG
;
Ha Young NOH
;
Young Ok KIM
;
So Yeon KIM
;
Hae Yul CHUNG
;
Yoon Ha KIM
;
Hoon KOOK
Author Information
1. Department of Microbiology, College of Medicine, Chungnam National University, Daejeon, Korea. hoonkook@chonnam.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Severe Combined Immunodeficiency;
Genetic Diseases, X-linked;
Mutation;
Genetic Counseling;
Korea
- MeSH:
Arginine/chemistry;
Cysteine/chemistry;
DNA/metabolism;
DNA Mutational Analysis;
Female;
Flow Cytometry;
Genetic Counseling/*methods;
Heterozygote;
Human;
Immunoglobulins/metabolism;
Immunophenotyping/methods;
Korea;
*Linkage (Genetics);
Male;
*Mutation;
Pedigree;
Point Mutation;
Polymerase Chain Reaction;
Polymorphism, Restriction Fragment Length;
Receptors, Immunologic/*genetics;
Sequence Analysis, DNA;
Severe Combined Immunodeficiency/*diagnosis/*genetics;
Support, Non-U.S. Gov't;
Time Factors;
*X Chromosome
- From:Journal of Korean Medical Science
2004;19(1):123-126
- CountryRepublic of Korea
- Language:English
-
Abstract:
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21. A 13-month-old boy with recurrent infections who had reduced serum immunoglobulin levels and decreased numbers of CD3, CD16/56 cells was evaluated for gamma c chain gene mutation and protein expression. The patient had a C-to-T point mutation at nucleotide position 690, one of the hot spots, resulting in a single amino acid substitution of cysteine for arginine (R226C), as determined by direct sequencing and PCR-RFLP. The patient's mother was a heterozygous carrier. Percutaneous umbilical cord blood sampling was performed at the 6-month of gestation in a subsequent pregnancy. As the immunophenotype of the fetus showed an identical pattern, the pregnancy was terminated and genetic analysis of the abortus confirmed recurrence. This is the first report of the molecular diagnosis of X-SCID in Korea. Genetic analysis of the gamma c chain gene is useful for definite diagnosis and genetic counseling for X-SCID.
