Researchers at the UW, Children's Hospital and Regional Medical Center in Seattle, and elsewhere have developed a gene therapy in mice for X-linked agammaglobulinemia (XLA), an immune deficiency disease. Results of the group's work appeared this month in Blood, the journal of the American Society of Hematology.

David Rawlings, associate professor of pediatrics and immunology at the UW and head of the Children's Section of Immunology, led the study. The researchers found that a retroviral gene therapy could replace the mutated gene that causes XLA, Bruton's tyrosine kinase (Btk).

XLA, an inherited disease affecting only males, prevents the formation of antibodies, often leaving those with the disease unable to fight off infections. The gene therapy developed and tested by the researchers restored the development of immune cells and promoted antibody production in mice with XLA.

In 1993, Rawlings' group identified a mutation in the gene Btk as the cause of XLA, and have since worked on repairing or replacing that gene in animals. The researchers hope eventually to take the animal-model gene therapy and transfer it to a treatment for human patients.