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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.

This invention relates to a novel magnetic resonance angiography (MRA) method that accomplishes uniform contrast enhancement between coronary arteries and the surrounding tissue across the entire imaging volume. The disclosed technique utilizes an adiabatic refocusing transverse relaxation time (T₂)-preparation pulse sequence, in which the magnetization is tipped into the transverse plane with a hard radio-frequency (RF) pulse and refocused using a pair of adiabatic fast-passage RF pulses. The isochromats are subsequently returned to the longitudinal axis using a hard RF pulse.

Cytokines exert their respective biochemical and physiological effects by binding to specific receptor molecules, which then stimulate signal transduction pathways. Interleukin-21 (IL-21) is a type I cytokine whose receptor is expressed on T, B, and NK cells.

This invention is a method to significantly improve the temporal or spatial resolution in a phase contrast MRI (PC-MRI) study. In general, conventional PC-MRI involves encoding the motion information of spins in the phase of the image. The velocity of the spin motion can be extracted by calculating the phase difference between two consecutive images acquired with two different bipolar encoding gradients.

Approximately 30,000 patients are diagnosed with renal cell carcinoma (RCC) each year in the United States, and an estimated 12,000 patients die of this disease. Most patients are diagnosed with advanced local disease or metastatic disease. Metastatic RCC carries a poor prognosis with median survivals in the range of 10-12 months. Drugs that inhibit VEGF receptor tyrosine kinases such as Sorafenib and Sunitinib have recently been approved by the FDA to treat metastatic RCC.

Immuno-therapy has taken a lead among the new cancer therapeutic approaches. It is one of the most promising new therapeutic approaches that exploit the innate immune mechanism of an individual to fight against a certain disease.

Available for licensing and commercial development is a novel two-photon microscope system, which would allow improved fluorescent light collection, the use of less excitation power and deeper penetration of tissue and isolated cells. Multi-photon fluorescence microscopy (MPFM) is an imaging technique that can investigate biological processes to sub-cellular resolution at depths of hundreds of microns below the surface of biological tissues.

The catalytic subunit of the DNA-dependent protein kinase complex (DNA-PKcs) has been shown to be important in DNA repair and VDJ recombination in lymphocytes. The inventors have discovered that DNA-PKcs also plays novel, important roles in energy regulation and neurological function. The inventors observed that mature DNA-PKcs-deficient mice (also known as SCID mice) have a lower proportion of fat, resist obesity, and have significantly greater physical endurance than wild-type control mice, particularly with increasing age.

The ubiquitin-proteasome system has recently been recognized to play a central role in tumor biology. Bortezomib, an inhibitor of the chymotrypsin-like activity of the proteasome, has clinical activity in a variety of hematologic malignancies and is FDA approved for use in Multiple Myeloma and Mantle Cell Lymphoma.

Cell-free hemoglobin based oxygen carriers (HBOCs) are blood substitutes and resuscitative agents that can be used to replace whole blood donations, alleviate blood shortages and reduce the risks of infections such as HIV and hepatitis. Stroma-free HBOCs offer the advantages of increased stability, consistency of supply, and reduced immunogenicity over the use of the alternative cell based sources.