"At Boston Children's Hospital, we are committed to utilizing state-of-the-art cell and molecular therapies to treat devastating pediatric diseases like Wiskott-Aldrich syndrome."
David A. Williams, MD, chief of the Boston Children's Hospital Division of Hematology/Oncology and director of Translational Research
Every living organism on this planet is made up of genes – tiny, complex coded instructions that determine what we look like, who we’re related to and how we’ll pass on our traits to our children (and our children’s children’s children). Sometimes, the genes we inherit from a parent also contain mutations, or mistakes in the genetic code.
When the mutation happens on the X chromosome – one of the two chromosomes, X and Y, that determine a person’s gender – it can be passed on by mothers to their sons. Boys have only one X chromosome, so male babies can’t escape inheriting the mutation. Even though the mothers themselves don’t experience any physical problems from the mutation, they can carry it – and the disease it causes – over to their male children.
Wiskott-Aldrich syndrome (WAS) is a rare disease that is transmitted in this way. Named after the two scientists who helped identify and explain it, WAS is a serious and potentially life-threatening disorder that almost always affects boys. It causes a child to have a poorly functioning immune system – the body’s “defense center” against infection – and difficulty producing platelets, the blood cells that keep bleeding under control.
When a child has WAS, he typically faces:
- frequent bleeding, even from mild bumps and scrapes, that is hard to slow down or stop
- eczema (atopic dermatitis)
- ongoing infections, including pneumonia, ear infections and sinus infections
In addition, children with WAS are at elevated risk for developing:
- other autoimmune diseases
- inflammatory bowel disease (IBD)
- nephritis (kidney inflammation)
- lymphoma and other malignant cancers
How Children’s Hospital Boston approaches Wiskott-Aldrich syndrome
Children’s has a long history of caring for children with complex disorders of the immune system. Clinicians in our Cancer and Blood Diseases Center and Division of Allergy and Immunology are regarded as international leaders in understanding and treating rare conditions like Wiskott-Aldrich syndrome.
The only known cure for WAS is a stem cell transplant (also known as a bone marrow transplant). Once introduced into your child’s bloodstream, the stem cells should develop into new white blood cells that replenish the immune system. The Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) Pediatric Stem Cell Transplantation Program – one of the first and most renowned pediatric transplant centers in the nation – performs about 80 stem cell transplants each year. Our specialists not only conduct groundbreaking stem cell research and devise exciting new treatments; they also have a unique understanding of the special needs of the youngest, smallest patients.
In addition, Children’s is now helping to lead one of the first gene therapy trials in the world for children with WAS. The trial – which transplants genetically modified stem cells from a child’s own bone marrow – may signify a promising new approach to fighting and defeating the disease.
|Spotlight on: Virtual stem cell laboratory|
|Check out this interactive guide to stem cells – and even “create” your own.|
Wiskott-Aldrich syndrome: Reviewed by Luigi Notarangelo, MD
© Children’s Hospital Boston; posted in 2011