Methods for diagnosis of XSCID and kits thereof

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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4351723, 4353201, 435810, 436501, 536 221, 536 231, 536 241, 536 243, 536 2431, 536 2432, 536 2433, 935 9, 935 13, 935 77, 935 78, C12Q 168, C07H 2104

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055188800

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

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