Severe combined immunodeficiency (SCID) is a rare syndrome of profoundly impaired immunity, most often X-linked (XSCID). In past generations male infants with XSCID succumbed to infections during the first year of life, but prompt diagnosis and bone marrow transplantation currently make survival pos
A Japanese family pedigree of patients with severe combined immunodeficiency disease with X-linked inheritance
โ Scribed by Masayoshi Minegishi; Shigeru Tsuchiya; Yoshiko Yamaguchi; Tetsuo Sato; Naoko Minegishi; Tasuke Konno
- Publisher
- Nature Publishing Group
- Year
- 1991
- Tongue
- English
- Weight
- 361 KB
- Volume
- 36
- Category
- Article
- ISSN
- 1435-232X
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.
We present a linkage map of DNA probes around the X-linked severe combined immunodeficiency (IMD4) locus at Xq11-13. DXS159 and PGK1 show no cross-overs with the disease locus (Lod 3.01 at theta = 0.00). The order of loci is DXS1-DXS106-(DXS159-PGK1-IMD4)-DXS72 -DXYS1. Members of families whose carr