Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)
Male
X Chromosome
Genetic Linkage
DNA Mutational Analysis
Antibodies, Monoclonal
Infant
Receptors, Interleukin-2
3. Good health
03 medical and health sciences
0302 clinical medicine
Japan
Mutation
Humans
Severe Combined Immunodeficiency
DOI:
10.1007/s004390000381
Publication Date:
2003-02-13T05:27:25Z
AUTHORS (28)
ABSTRACT
X-linked severe combined immunodeficiency (X-SCID) is a rare fatal disease that is caused by mutations in the gene encoding the gammac chain. In this study, 27 unrelated Japanese patients with X-SCID were examined in terms of their genetic mutations and surface expression of the gammac chain. Among 25 patients examined, excluding two patients with large deletions, 23 different mutations were identified in the IL2RG gene, including 10 novel mutations. One patient bearing an extracellular mutation and all three of the patients bearing intracellular mutations after exon 7 expressed the gammac chain on the cell surface. Overall, 84% of patients lacked surface expression of the gammac chain leading to a diagnosis of X-SCID.
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