Gene Therapy for Immune Deficiency in Mice

Researchers have developed a gene therapy in mice for X-linked agammaglobulinemia (XLA), an immune deficiency disease. 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.

Dr. David Rawlings, associate professor of pediatrics and immunology at the UW and head of the Section of Immunology at Children's Hospital, led the study.

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

Results of the XLA gene therapy study in mice appeared in Blood, the journal of the American Society of Hematology. The research took place at the UW, Children's Hospital and Regional Medical Center in Seattle, and other institutions.