Methods for diagnosis of XSCID and kits thereof
US5518880A · kind A · utility
Assignee
Inventors
Key dates
| Filing date | Mar 12, 1993 |
| Grant date | May 21, 1996 |
| Priority date | — |
| Expiry date | Mar 12, 2013 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY10S435/81
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
Abstract
The present invention provides a method for diagnosing XSCID in a male subject or determining whether a female subject is a carrier of XSCID which comprises determining whether the male or female subject possesses a mutated IL-2R.gamma. gene, the presence of the mutated IL-2R.gamma. gene being indicative that the male subject has XSCID or the female subject is a carrier of XSCID. The present invention also provides a method for diagnosing XSCID in a subject which comprises determining whether the subject possesses a truncated IL-2R.gamma. protein, the presence of the truncated IL-2R.gamma. protein being indicative of XSCID. The present invention further provides kits for diagnosing XSCID in a male subject or determining whether a female subject is a carrier of XSCID. The present invention still further provides methods for treating XSCID and a method for monitoring therapy. Lastly, the present invention provides a promoter which regulates expression of IL-2R.gamma., a vector comprising a DNA molecule operably linked to the promoter, a prokaryotic or eukaryotic cell host stably transformed or transfected with the vector, and a transgenic animal comprising a gene regulated by the pro…
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.