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Researchers at Seattle's Children's Hospital Uncover Clues to Solving a Long-Standing Medical Puzzle

January 11, 2007

 A new study by researchers at Children’s Hospital and Regional Medical Center and the University of Washington (UW) provides a better understanding of the rare, inherited disorder of the immune system called Wiskott-Aldrich Syndrome (WAS).

A new study by researchers at Children’s Hospital and Regional Medical Center and the University of Washington (UW) provides a better understanding of the rare, inherited disorder of the immune system called Wiskott-Aldrich Syndrome (WAS).

WAS is an inherited disorder of the immune system that affects males, and becomes symptomatic in early childhood. It is characterized by recurrent infections, bleeding due to low platelet numbers, and eczema (a chronic skin rash).

The disorder is caused by a mutation in the Wiskott-Aldrich Syndrome protein (WASp) gene. At this time, bone marrow transplant is the only known cure.

While most studies have focused on understanding the defects in T cell activation caused by the WASp deficiency, researchers at Children’s Hospital and the UW in Seattle have now found that in mice and humans a population of T cells known as regulatory T cells, which keep other immune cells from attacking the body’s own tissues and causing autoimmunity, are also impaired in the absence of WASp.

“By studying one of our patients as well as animals, we found that WASp is needed to keep regulatory T cells alive. This helps to explain why, despite their immune deficiency, that so many WAS patients have severe autoimmune problems,” said Dr. David Rawlings, lead researcher and section head of Immunology at Children’s Hospital and the UW.

“It is another rewarding example of where our patients’ willingness to assist in our research has lead to a fundamental insight into the human immune system.”

In the Jan. 11 issue of the Journal of Clinical Investigation, Dr. David Rawlings and colleagues uncovered a role for regulatory T cells in what was previously viewed as a paradox: WAS patients experienced both immune-deficiency (inability to fight off infections) as well as autoimmunity (inappropriate immune responses against their own cells and tissues).

These researchers have been working to develop a cure for WAS by replacing the deficient gene in the patient’s bone marrow using gene therapy. Based on this study and others these gene corrected cells (including the regulatory T cells) have a growth advantage, meaning that they can outcompete and thereby eventually outnumber the deficient cells.

These findings provide important new information regarding signals that keep regulatory T cells alive. It suggests that gene therapy for WAS will not only restore the ability to fight off infections but should also block autoimmunity. These observations may also lead to strategies to harness regulatory T cells to combat other autoimmune disorders such as diabetes, arthritis, and lupus.

In addition to Dr. David Rawlings, other authors of the study are Stephanie Humblet-Baron, Immunology, Stephanie Anover, research supervisor, Immunology, Shirley Becker-Herman, Socheath Khim, research scientist, Immunology, Thuc Nguyen, Hans Ochs, MD, chief, Immunology Clinic at Children’s Hospital, and Troy Torgerson, MD, Rheumatology at Children’s Hospital.

A complete copy of the study is available at the Journal of Clinical Investigation website.

About Seattle Children's Hospital

Consistently ranked as one of the best children’s hospitals in the country by U.S. News & World Report, Children’s serves as the pediatric and adolescent academic medical referral center for the largest landmass of any children’s hospital in the country (Washington, Alaska, Montana and Idaho). For more than 100 years, Children’s has been delivering superior patient care and advancing new treatments through pediatric research. Children’s serves as the primary teaching, clinical and research site for the Department of Pediatrics at the University of Washington School of Medicine. The hospital works in partnership with Seattle Children’s Research Institute and Seattle Children’s Hospital Foundation. For more information, visit http://www.seattlechildrens.org.

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