Description of Invention:
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 Area of Application:
diagnosing XSCID
identifying a carrier
treating XSCID
monitoring effectiveness of therapy for XSCID
research reagent
Main Advantage of Invention:
diagnostic test is only way of definitively diagnosing XSCID
process for diagnosis is completely developed
Further Development Required:
testing of methods for treatment
clinical trials
Inventors:
Warren J. Leonard (NHLBI) Masayuki Noguchi (NHLBI) Wesley McBride (NCI)
Patent Status:
DHHS Reference No. E-079-1993/0 --
U.S. Patent No. 5,518,880 issued 21 May 1996, "Methods for Diagnosis of XSCID and Kits Thereof"
DHHS Reference No. E-079-1993/1 --
U.S. Patent No. 5,912,173 issued 15 Jun 1999, "Transgenic Murine Model for XSCID"
Relevant Publication:
Leonard WJ. Dysfunctional cytokine receptor signaling in severe combined immunodeficiency. J Investig Med 1996 Aug;44(6):304-11
Leonard WJ. The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling. Annu Rev Med 1996;47:229-39
Qazilbash MH, Walsh CE, Russell SM, Noguchi M, Mann MM, Leonard WJ, Liu JM. Retroviral vector for gene therapy of X-linked sever combined immunodeficiency syndrome. J. Hematotherapy, 4, 91-98, 1995.
Leonard WJ; Noguchi M; Russell SM; McBride OW. The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c. Immunol Rev 1994 Apr;138:61-86
Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell, 73, 147-157, 1993
For Additional Information Please Contact: Jennifer Wong
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301)435-4633
Email: wongje@mail.nih.gov
Fax: (301)402-0220
