Technology Bundle ID
TAB-129

Methods for Diagnoses and Treatment of XSCID

Applications
Therapeutics
Research Materials
Diagnostics
Linked ID
E-079-1993-0
Lead Inventors
Warren Leonard (NHLBI)
Co-Inventors
Masayuki Noguchi (NHLBI)
Wesley Mcbride (NCI)
ICs
NHLBI
NCI
The invention provides a method of diagnosing X-linked severe combined immunodeficiency (XSCID) in males or determining whether females are carriers. This method is based upon the presence of either a mutated or truncated IL-2Rgamma gene. The invention also discloses a method of treating XSCID as well as a method for monitoring the therapy. Lastly, the invention provides a promoter which regulates the expression of IL-2Rgamma, a vector comprising a DNA molecule operably linked to the promoter, a cell host that has been transformed with the vector, and a transgenic mouse comprising the promoter or a mutant IL-2Rgamma.
Commercial Applications
  • Diagnosing XSCID
  • Identifying a carrier
  • Treating XSCID
  • Monitoring effectiveness of therapy for XSCID
  • Research reagent
Competitive Advantages
  • Diagnostic test is only way of definitively diagnosing XSCID
  • Process for diagnosis is completely developed

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