Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
作者信息
Kraakman M E, de Weers M, Español T, Schuurman R K, Hendriks R W
机构信息
Department of Immunohaematology, University Hospital Leiden, The Netherlands.
出版信息
Clin Genet. 1995 Jul;48(1):46-8. doi: 10.1111/j.1399-0004.1995.tb04053.x.
Abstract
A 13-year-old boy with immunodeficiency with hyper-IgM was analyzed for mutations in the CD40L gene. An insertional mutation of an extra T in a run of four T's was found in the second exon of the gene, leading to a premature translation stop. Genetic counselling of the family was performed, based on mutation detection by PCR/oligohybridization.
摘要
相似文献
1
Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
Clin Genet. 1995 Jul;48(1):46-8. doi: 10.1111/j.1399-0004.1995.tb04053.x.
2
3
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.X连锁高IgM免疫缺陷中的CD40配体突变
Nature. 1993 Feb 11;361(6412):541-3. doi: 10.1038/361541a0.
4
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".T细胞上CD40配体的表达缺陷会导致“X连锁高免疫球蛋白M血症（HIGM1）”。
Immunol Rev. 1994 Apr;138:39-59. doi: 10.1111/j.1600-065x.1994.tb00846.x.
5
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.X连锁高IgM综合征患者活化T细胞中的CD40配体gp39存在缺陷。
Cell. 1993 Jan 29;72(2):291-300. doi: 10.1016/0092-8674(93)90668-g.
6
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.CD40lbase：一个导致X连锁高IgM综合征的CD40L基因突变数据库。
Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5.
7
A point mutation in exon 2 of the CD40 ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M.
Hum Mol Genet. 1995 Apr;4(4):759-61. doi: 10.1093/hmg/4.4.759.
8
Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).伴正常或升高IgM的X连锁免疫球蛋白缺陷（HIGMX-1）的分子病理学
Immunol Rev. 1994 Apr;138:87-104. doi: 10.1111/j.1600-065x.1994.tb00848.x.
9
Hyper-IgM immunodeficiency with disseminated cryptococcosis.伴有播散性隐球菌病的高IgM免疫缺陷
Acta Paediatr. 1994 Jul;83(7):780-2. doi: 10.1111/j.1651-2227.1994.tb13140.x.
10
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.导致X连锁高IgM综合征的CD40配体基因缺陷。
Science. 1993 Feb 12;259(5097):990-3. doi: 10.1126/science.7679801.
引用本文的文献
1
The hyper-IgM (HIM) syndrome.高IgM综合征
Springer Semin Immunopathol. 1998;19(4):383-99. doi: 10.1007/BF00792598.
Zotero 插件