Methods for Diagnoses and Treatment of XSCID

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.

Potential Commercial Applications: Competitive Advantages:
  • Diagnosing XSCID
  • Identifying a carrier
  • Treating XSCID
  • Monitoring effectiveness of therapy for XSCID
  • Research reagent
  • Diagnostic test is only way of definitively diagnosing XSCID
  • Process for diagnosis is completely developed


Warren Leonard (NHLBI)  ➽ more inventions...

Wesley Mcbride (NCI)  ➽ more inventions...

Masayuki Noguchi (NHLBI)  ➽ more inventions...

Intellectual Property:
US Pat: 5,518,880 issued 1996-05-21
US Pat: 5,912,173 issued 1999-06-15
US Application No. 08/121,435 filed on 1993-09-14

Leonard WJ. PMID 8795294
Leonard WJ. PMID 8712778
Qazilbash MH, et al. PMID 7633846
Leonard WJ, et al. PMID 8070818
Noguchi M, et al. PMID 8462096

Licensing Contact:
Michael Shmilovich, J.D.
Phone: 301-435-5019

OTT Reference No: E-079-1993-0
Updated: Apr 8, 2014