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Wiskott Aldrich Syndrome

  • "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:

    In addition, children with WAS are at elevated risk for developing:

    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

    »
    The only known cure for WAS is a stem cell transplant through our Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) Pediatric Stem Cell Transplantation Program. In addition to transplantation, the Program is now helping to lead one of the first gene therapy clinical trials in the world for children with WAS.
    Boston Children's Hospital 
    300 Longwood Avenue
    Boston MA 02115

     617-632-3961

    »
    Children with WAS often have complications associated with the disorder such as eczema (atopic dermatitis), ongoing infections, and other immune system disorders which will be cared for through our Immunology Program.
    Boston Children's Hospital
    300 Longwood Avenue
    Fegan 6
    Boston MA 02115

     617-355-6117

  • At Children’s Hospital Boston, we understand how scary and overwhelming a diagnosis of Wiskott-Aldrich syndrome can be. Right now, you probably have a lot of questions: How serious is this condition? What is the best treatment approach for my child? What do we do next?

    We’ve provided some general answers on these pages, and our pediatric specialists can explain your child’s condition and prognosis fully when you meet with us.

    What is Wiskott-Aldrich syndrome, and what does it have to do with my child’s immune system?
    Picture the human immune system as an army that constantly patrols, protects and defends the body from all types of “enemies,” including:

    • bacteria
    • viruses
    • parasites

    The immune system first takes root in a developing fetus’ bone marrow. That’s where some stem cells eventually mature into the two cell types that play the biggest role in warding off infection: T cells (white blood cells that identify and attack perceived “invaders”) and B cells (white blood cells that produce antibodies against infection).

    When a child has Wiskott-Aldrich syndrome:

    • his body doesn’t produce T cells
    • because there are no T cells, the B cells don’t work
    • his immune system is virtually nonexistent

    Without a working immune system, a child with WAS has no way of warding off infections. From the time he is born, he will be at constant risk for:

    These problems are further complicated by the other aspect of WAS: The child’s body does not properly produce platelets, the clotting agents that stop bleeding from getting out of control. Without healthy platelets, the child is likely to experience frequent and hard-to-control bleeding, even from the mildest bumps and scrapes. This bleeding can occur:

    • under the skin
    • from the nose
    • from the gums and mouth
    • in bowel movements

    As a result of these combined deficiencies, children with WAS are also at elevated risk for developing:

    Is Wiskott-Aldrich syndrome treatable?
    The only proven treatment for Wiskott-Aldrich syndrome is a stem cell transplant (also known as a bone marrow transplant). Because stem cells have the special ability to develop into other types of cells, a transplant can give the child’s body an essential new source of healthy white blood cells – rebuilding his immune system and allowing him to successfully ward off infections.

    Although WAS is a potentially life-threatening disease, there is hope: a timely diagnosis and prompt treatment make the condition very treatable in the vast majority of cases. You and your child are in the best possible hands. 

    Causes 

    What causes Wiskott-Aldrich syndrome?
    WAS is a genetic disorder – meaning it is caused by a mutation, or error, in the child’s genes.

    WAS develops as the result of a defect in a gene located on the X chromosome. Because females have two X chromosomes, but males have only one, mothers can carry the defective gene on to their male children. As a result, WAS is a disease that almost always affects boys only.

    Signs and symptoms

    What are the symptoms of Wiskott-Aldrich syndrome?
    Nearly every child with WAS will start showing symptoms as a baby, between the time he’s born and by the time he turns 1. The symptoms usually include:

    • frequent and easy bleeding that can occur:
    • from the nose
    • from the mouth and gums
    • in bowel movements
    • frequent and easy bruising
    • a small red rash consisting of “dots” under the skin (this is called petechiae)
    • chronic infections
    • eczema (atopic dermatitis)

    FAQ 

    Q: Is WAS always present at birth?
    A: Yes. Since WAS is a genetic disorder (caused by an error in the genes), it is always present at birth. (Symptoms may not show up until later in his infancy, however.)

    Q: Why does WAS affect boys in almost every case?
    A:
    Wiskott-Aldrich syndrome develops as the result of a defect in a gene located on the X chromosome. Because females have two X chromosomes, but males have only one, mothers can carry the defective gene on to their male children. As a result, WAS is a disease that almost always affects boys only.

    Q: How rare is Wiskott-Aldrich syndrome?
    A:
    Very: according the National Institutes of Health, only 1 to 10 out of every 1 million boys has WAS.

    Q: Is WAS a type of cancer?
    A: No, it’s not. The disease is treated through the Dana-Farber/Children’s Hospital Cancer Center because of our expertise in performing stem cell (bone marrow) transplants here.

    Q: Can WAS be detected during pregnancy?
    A: Yes; prenatal testing can detect the gene mutation responsible for WAS. Learn how Children’s Advanced Fetal Care Center can do this.

    Q: Is there any test that can detect WAS in a baby before symptoms emerge?
    A: Yes: newborn screening. Learn more about newborn screening with this Children’s Hospital Boston brochure.

    Q: Is the rest of my family at risk for WAS? Should my child’s siblings be screened?
    A: If your child’s siblings are girls, it is very unlikely that they will also have WAS (though they can pass the mutation causing the disease on to their own sons). Because WAS is a genetic disorder, it is a good idea to ask your doctor about genetic counseling for yourself and your other children. Learn how the Genetics Program at Children’s can help.

    Q: Are there different types of WAS?
    A: Yes. While the majority of boys with WAS have the type known as the “classic” form, some experience a milder form of the disease known as X-linked thrombocytopenia. This is caused by a defect in the same gene involved in classic WAS, but the symptoms are much milder.

    Usually, children with X-linked thrombocytopenia have platelets that are overly small in both size and number. As a result, they have trouble with easy bleeding and bruising, but do not experience the other, more severe complications.

    Your treating clinician can give you specifics about the form of WAS your child has.

    Q: Will my child be OK?
    A: WAS is a very serious disorder that can be life-threatening. The good news is that recent advances in treatment, especially stem cell transplants and gene therapy, have made the future much brighter for children and families facing this illness.

    Your child’s treatment team will give you all the information you need about his individual symptoms, recommended treatment plan and long-term outlook.

    Q: If my child has WAS, does this mean he can’t be around other children, go outdoors or otherwise do anything in a non-sterile environment?
    A:
    Any child with WAS has a severely compromised immune system and is at serious risk of developing infections. This means consistent and thorough infection control measures are a must. However, in many instances, taking simple precautions, like having your child wear a protective mask, can be enough to keep him protected before or in between more involved treatments, like a stem cell transplant.

    Always ask your treating clinician for guidelines to keep your child protected from infection.

    Q: How do I reduce my child’s risk of getting an infection?
    A: Your child's physician will give you specific recommendations for lowering his risk of infection.

    In general, families of children with compromised immune systems should take the following steps:

    • follow a strict handwashing regimen for all family members and visitors
    • use an air filtration system
    • have the child wear a protective mask when leaving the home
    • if advised by the treating clinician, administer antibiotics, antifungal or antiviral medications as a preventive measure for the child
    • avoid having the child in crowds, dirty places or in the company of anyone who is ill or seems to be "coming down with something"
    • watch closely for any sign of a possible infection and seek immediate medical attention

    Q: How can I reduce my child’s chances of bleeding or bruising?
    A: Your child's physician will provide you with specific recommendations for lowering his risk of uncontrolled bleeding or bruising. Some measures can include:

    • taking corticosteroids (drugs that help prevent allergic and inflammatory reactions)
    • receiving infusions of the antibody immunoglobin
    • receiving platelet transfusions (this is usually only prescribed in an emergency situation)
    • removing the spleen (this is usually only prescribed in an emergency situation)

    Q: Is it safe for my baby to get the standard childhood vaccinations?
    A: As a rule, no. Because the B-cells of children with WAS do not function properly, their bodies cannot produce the normal antibiodies that fight off viruses. Since many vaccines are actually live viruses, they pose too high a risk of infection to be safe for a child with a drastically weakened immune system. Talk to your child’s doctor for more information.

    Q: Why is a stem cell transplant/bone marrow transplant the best treatment for WAS?
    A: Stem cell transplants, or bone marrow transplants, work because they essentially re-create a healthy immune system. Stem cells are special cells that can mature into many different kinds of specialized cells.

    In a stem cell transplant for WAS, stem cells from a donor's bone marrow are introduced into the child's system. Once transplanted, they can become white blood cells that rebuild and replenish the child's immune system.

    Not every child with WAS will benefit from a stem cell transplant, but the odds of success are very good when:

    • the bone marrow comes from a matched sibling (the optimal scenario) or, if this is not possible, from a parent or other family member
    • the transplant takes place within the child's first few weeks to first 3 months of life

    Q: If my child has a stem cell transplant, does this mean he’s cured?
    A: If the transplant works – meaning the stem cells develop into normal, functional white blood cells that create a new, working immune system for your child – he may be considered cured. Many kids who undergo a stem cell transplant go on to experience a full return of healthy immune function. The younger the child is when the transplant occurs, the better the odds of being completely cured.

    Q: Can my child go on to live a normal adult life, including having a family?
    A: If your child's immune system is restored to good working order, he should be able to enjoy a rich, active adult life, including having a family. It is important to note, though, that genetic counseling is essential for prospective parents with a family history of WAS or any other immune deficiency.

    Questions to ask your doctor

    You and your family play an essential role in your child’s treatment for Wiskott-Aldrich syndrome. It’s important that you share your observations and ideas with your child’s treating physician, and that you have all the information you need to fully understand the treatment team’s explanations and recommendations.

    You’ve probably thought of many questions to ask about your child’s symptoms and prognosis. It’s often very helpful to jot down your thoughts and questions ahead of time and bring them with you, along with a notebook, to your child’s appointment. That way, you will have all of your questions in front of you when you meet with your child’s treating clinician and can make notes to take home with you. (If your child is old enough, you can encourage him to write down questions, too.)
     
    Initial questions to ask your doctor might include: 

    • How did you arrive at this diagnosis?
    • Are there any other conditions my child might have instead of or in addition to WAS?
    • Does my child require further testing or procedures?
    • How extensive is the damage to his immune system?
    • Should my other family members be screened for WAS?
    • What medications will you prescribe and what are the possible side effects?
    • How can I reduce the likelihood of my child contracting an infection?
    • How can I lessen my child’s risk of uncontrolled bleeding and bruising?
    • Is my child a candidate for a stem cell transplant/bone marrow transplant? If yes, how soon and what are the possible risks involved?
    • How should I explain my child’s condition to others?
    • What other resources can you point me to for more information?
  • At Children’s Hospital Boston, we know that the first step to treating your child is forming an accurate, timely diagnosis.

    How is Wiskott-Aldrich syndrome diagnosed?
    A diagnosis of WAS is usually made based on:

    • a complete medical history and physical examination of your child
    • a test that measures the amount of platelets (clotting agents) in his blood
    • a test that measures the presence of the antibody immunoglobin in his blood
    • other blood tests as needed

    The diagnosis can be confirmed with a genetic test to detect the presence of the mutation responsible for WAS.

    Did you know?
    Many of the laboratory tests offered in our Immunology Program are only available at Children’s Hospital Boston.
  • It's entirely natural that you are very concerned about your child's health; a diagnosis of Wiskott-Aldrich syndrome is serious and can be frightening.  But you can rest assured that you and your child are in the best of hands at Boston Children's Hospital. Our physicians are skilled, compassionate and committed to focusing on your child as an individual – never “just a patient.”

    What are the treatment options for WAS?

    Guarding against infection
    Nothing is more important to the health of a child with WAS than warding off potential infections. This can be achieved in a few different ways.

    Basic precautions

    You should be sure to always:

    • keep your child away from crowds, dirty environments and sick people
    • use protective face masks at the recommendation of your child's doctor
    • follow a strict handwashing regimen for your child, your family and any visitors

    Antibody infusions
    Because your child's body does not have healthy B cells that produce antibodies against infection, he may need regular infusions(administration through a vein) of the antibody immunoglobin(also known as immune globinor gammaglobin).

    Your child's clinician can advise you about the exact steps you should be taking to help reduce the risk of infection.

    Guarding against bleeding/bruising
    Some measures for lowering the risk of uncontrolled bleeding and bruising can include:

    • taking corticosteroids (drugs that help prevent allergic and inflammatory responses)
    • receiving infusions of the antibody immunoglobin
    • receiving platelet transfusions (this is usually only prescribed in an emergency situation)
    • removing the spleen (this is usually only prescribed in an emergency situation)

    Managing eczema (atopic dermatitis)
    There are several useful ways of managing eczema. Learn more.

    Stem cell/bone marrow transplants
    A stem cell transplant (also known as a bone marrow transplant) is the mainstay of treatment for WAS. This is the only available treatment option that has a chance of providing a permanent cure.

    Stem cells are a versatile type of cell found in bone marrow. These cells have a unique and powerful ability: they can develop into several different types of specialized cells.

    In the case of a child with WAS, the transplanted stem cells are injected into the bloodstream. They will then become healthy white blood cells that replenish immune functions – essentially building a whole new, functional immune system for the child. If the immune system regains complete function, the child may be permanently cured.

    The effectiveness of a stem cell transplant for WAS depends on:

    • the child's overall health at the time of the procedure
    • the match between the patient and donor's bone marrow (the best option is marrow taken from a matched sibling)
    • the child's age at the time of the transplant (for optimal success, a baby should have the transplant performed no later than the age of 3 months)

    The Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) Pediatric Stem Cell Transplantation Program is one of the oldest, largest and most experienced pediatric transplant centers in the nation. Our experts perform approximately 80 transplants for children of all ages, with a wide variety of health conditions and from all around the world, every year.

    Read our FAQ for parents about stem cell transplants.

    Learn more about stem cell medicine at Children's.

    Gene therapy
    Stem cell transplants are not always perfect treatments for WAS. For example, children are often unable to produce antibodies, even after a transplant. They usually need transfusions of the antibody immunoglobinthroughout their lives.

    In addition, any transplant carries a risk of a phenomenon known as graft-versus-host disease. This means that the body rejects and attacks the donated bone marrow as an unwanted intruder; especially in a small infant, the strength of the body's “fight the invader” response can be fatal.

    A new and promising field, gene therapy, may have the answers to these treatment obstacles. In gene therapy, patients receive stem cells from their own bone marrow (rather than from another person). These cells also have an added ingredient: they've been infused with a working, healthy version of the mutated gene responsible for the child's disease.

    If the gene therapy is successful, the child will enjoy all the benefits of a stem cell transplant without the potential hazard of graft-versus-host disease.

    Children's is a partner in a new, groundbreaking gene therapy trial for Wiskott-Aldrich syndrome. The U.S. portion of the trial will be funded by the National Heart, Lung and Blood Institute (NHLBI) through its Gene Therapy Resource Program (GTRP). Principal investigators at Children's are Sung-Yun Pai, MD, in the Division of Hematology/Oncology, and Luigi Notarangelo, MD, director of the Research and Molecular Diagnosis Program on Primary Immunodeficiencies in the Division of Allergy and Immunology. David A. Williams, MD, chief of the Division of Hematology/Oncology and director of Translational Research at Children's, will serve as sponsor-investigator.

    For more information about the study, and to find out if your child may be eligible to participate, please contact dawilliams@childrens.harvard.edu, Luigi.Notarangelo@childrens.harvard.edu or Sung-Yun.Pai@childrens.harvard.edu

    Help for kids dealing with the stress of an illness
    The Behavioral Medicine Clinic at Children's helps kids and families deal with anxiety, sadness and fears about their illness, medical and surgical procedures and long-term care. Call 617-355-6688 to learn more.

     

     

    Coping and support 

    When your child has a serious condition like Wiskott-Aldrich syndrome, your family is dealing with many different concerns and worries. Not only are you focused on meeting all of your child's medical needs; you are also grappling with a significant emotional and psychological toll that affects every member of your family.

    In addition to the clinical information offered on this page, Children's has several other resources designed to give your family comfort, support and guidance. 

    Patient and family resources at Children's

    • Children's Center for Families is dedicated to helping families locate the information and resources they need to better understand their child's particular condition and take part in their care. All patients, families and health professionals are welcome to use the center's services at no extra cost. The Center for Families is open Monday through Friday from 8 a.m. to 7 p.m., and on Saturdays from 9 a.m. to 1 p.m. Please call 617-355-6279 for more information.
       
    • The hospital's Complex Care Services provides care for children with complex medical conditions in both inpatient and outpatient settings. CCS partners with the child's family, primary care physician and treatment team specialists to ensure comprehensive, coordinated and centralized medical care. Please call 617-355-6162 for more information.
       
    • Children's Behavioral Medicine Clinic helps children who are being treated on an outpatient basis at the hospital—as well as their families—understand and cope with their feelings about:
      • being sick
      • facing uncomfortable procedures
      • handling pain
      • taking medication
      • preparing for surgery
      • changes in friendships and family relationships
      • managing school while dealing with an illness
         
    • For children and families affected by life-threatening illness, our Pediatric Advanced Care Team (PACT) is available to provide supportive treatments intended to optimize the quality of life and promote healing and comfort. In addition, PACT can provide emotional support and help arrange end-of-life care when necessary. Please call 617-632-5042 for more information.
       
    • The Experience Journal was designed by Children's psychiatrist-in-chief, David DeMaso, MD, and members of his team. This online collection features thoughts, reflections and advice from kids and caregivers about living with a variety of medical conditions, the “befores” and “afters” of surgery and going through many other medical experiences.
       
    • Children's Psychiatry Consultation Service provides several services, including:
      • short-term therapy for children admitted to one of the hospital's inpatient units
      • parent and sibling consultations
      • teaching healthy coping skills for the whole family
      • educating members of the medical treatment team about the relationship between physical illness and psychological distress
         
    • Children's Department of Psychiatry offers a free booklet, “Helping Your Child with Medical Experiences: A Practical Parent Guide.” (Adobe Acrobat required to view and download) Topics in the booklet include:
      • talking to your child about her condition
      • preparing for surgery and hospitalization
      • supporting siblings
      • taking care of yourself during your child's illness
      • adjusting to life after treatment
         
    • The Children's chaplaincy is a source of spiritual support for parents and family members. Our program includes nearly a dozen clergy members—representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions—who will listen to you, pray with you and help you observe your own faith practices during your child's treatment.
       
    • Children's International Center is a resource for patients and families from countries outside the United States. The center can provide assistance with everything from reviewing medical records to setting up appointments and locating lodging. Contact the center by phone at 01-617-355-5209 or via e-mail at international.center@childrens.harvard.edu.


      General guide for patients and families
      Read our guide to essential information across the hospital.
    Did you know?
    Children's has an Integrative Therapies Team, offering services like therapeutic touch, massage therapy, Reiki and more.


     

    Helpful links

    Please note that neither Boston Children's Hospital, the Division of Allergy and Immunology, the Cancer and Blood Diseases Center nor the Dana-Farber/Children's Hospital Cancer Center Stem Cell Transplantation Program unreservedly endorses all of the information found at the sites listed below. These links are provided as a resource.



    Did you know?
    You can keep family and friends up to date during your child's treatment by creating a free Children's Carepage.
  • At Children’s Hospital Boston, our care is informed by our research, and ourdiscoveries in the laboratory strengthen the care we provide at each child's bedside. Children’s scientific research program is one of the largest and most active of any pediatric hospital in the world.

    Généthon, the not-for-profit biotherapy laboratory funded by the French Muscular Dystrophy Association (AFM), and Children’s have initiated a partnership to conduct an exciting new gene therapy clinical trial for Wiskott-Aldrich syndrome. The U.S. portion of the trial will be funded by the National Heart, Lung and Blood Institute (NHLBI) through its Gene Therapy Resource Program (GTRP).

    Principal investigators at Children's are Sung-Yun Pai, MD, in the Division of Hematology/Oncology, and Luigi Notarangelo, MD, director of the Research and Molecular Diagnosis Program on Primary Immunodeficiencies in the Division of Allergy and Immunology. David A. Williams, MD, chief of the Division of Hematology/Oncology and director of Translational Research at Children’s, will serve as sponsor-investigator.

    For more information about the study, and to find out if your child may be eligible to participate, please contact dawilliams@childrens.harvard.edu, Luigi.Notarangelo@childrens.harvard.edu or Sung-Yun.Pai@childrens.harvard.edu.

    ABOUT CLINICAL TRIALS

    Children’s coordinates hundreds of clinical trials at any given time. Clinical trials are studies that may involve:

    • evaluating the effectiveness of a new drug therapy
    • testing a new diagnostic procedure or device
    • examining a new treatment method for a particular condition
    • taking a closer look at the causes and progression of specific diseases 

    Taking part in a clinical trial at Children’s is entirely voluntary. Our team will be sure to fully address any questions you may have, and you may remove your child from the medical study at any time. 

    Search current and upcoming clinical trials at Children’s

    Search the National Institutes of Health’s list of clinical trials taking place around the world

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