Methods for diagnosis of XSCID and kits thereof

摘要

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 promoter or a transgenic animal comprising a mutant IL-2R gamma gene.