People with Wiskott-Aldrich syndrome tend to bleed easily, and the first symptom is usually bloody diarrhea.
The diagnosis is based on results of blood tests and sometimes genetic testing.
Stem cell transplantation is necessary to preserve life.
(See also Overview of Immunodeficiency Disorders Overview of Immunodeficiency Disorders Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more .)
Wiskott-Aldrich syndrome is a primary immunodeficiency disorder Primary immunodeficiency Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more . It usually affects only boys. It results from a mutation in a gene on the X (sex) chromosome (called an X-linked disorder) X-Linked Inheritance Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . This gene codes for a protein needed by T cells T cells One of the body's lines of defense (immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more and B cells B cells One of the body's lines of defense (immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more to function. Thus, these cells malfunction. B cells do not produce immunoglobulins normally.
Platelets Platelets The main components of blood include Plasma Red blood cells White blood cells Platelets read more (cell particles that help blood clot) are small and malformed. The spleen removes and destroys them, causing the platelet count to be low.
Symptoms of Wiskott-Aldrich Syndrome
Because the number of platelets is low, bleeding problems, usually bloody diarrhea, may be the first symptom. Eczema Atopic Dermatitis (Eczema) Atopic dermatitis (commonly referred to as eczema) is chronic, itchy inflammation of the upper layers of the skin that often develops in people who have hay fever or asthma and in people who... read more also develops at an early age.
Susceptibility to viral and bacterial infections, particularly of the respiratory tract, is increased because immunoglobulin levels are low and T cells malfunction. The risk of developing cancers (such as lymphoma Overview of Lymphoma Lymphomas are cancers of lymphocytes, which reside in the lymphatic system and in blood-forming organs. Lymphomas are cancers of a specific type of white blood cells known as lymphocytes. These... read more and leukemia Overview of Leukemia Leukemias are cancers of white blood cells or of cells that develop into white blood cells. White blood cells develop from stem cells in the bone marrow. Sometimes the development goes awry... read more ) and autoimmune disorders Autoimmune Disorders An autoimmune disorder is a malfunction of the body's immune system that causes the body to attack its own tissues. What triggers autoimmune disorders is not known. Symptoms vary depending on... read more (such as hemolytic anemia Autoimmune Hemolytic Anemia Autoimmune hemolytic anemia is a group of disorders characterized by a malfunction of the immune system that produces autoantibodies, which attack red blood cells as if they were substances... read more , inflammatory bowel disease Overview of Inflammatory Bowel Disease (IBD) In inflammatory bowel diseases, the intestine (bowel) becomes inflamed, often causing recurring abdominal pain and diarrhea. The two primary types of inflammatory bowel disease (IBD) are Crohn... read more , and vasculitis Overview of Vasculitis Vasculitic disorders are caused by inflammation of the blood vessels (vasculitis). Vasculitis can be triggered by certain infections or drugs or can occur for unknown reasons. People may have... read more ) is increased.
Life expectancy is shortened. Premature death results most often from bleeding, but it may result from infections, autoimmune disorders, or cancers.
Diagnosis of Wiskott-Aldrich Syndrome
Sometimes genetic testing
Blood tests help doctors diagnose Wiskott-Aldrich syndrome. Theses tests are used to determine:
The total number of white blood cells and the percentages of the different types of white blood cells
The number of platelets
Levels of immunoglobulins
The quantity and type of antibodies produced in response to vaccines and other substances that usually trigger an immune response (antigens)
Genetic testing may be done to identify the mutation and confirm the diagnosis. It is recommended for close relatives.
If Wiskott-Aldrich syndrome is diagnosed, doctors monitor the person by regularly doing blood tests to check for leukemia and lymphoma.
Treatment of Wiskott-Aldrich Syndrome
Stem cell transplantation
Drugs to prevent infections
Immune globulin to replace the missing antibodies
Stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more is necessary to preserve life. Without it, most children with Wiskott-Aldrich syndrome die by age 15.
Antibiotics are given continuously to prevent infections, and immune globulin (antibodies obtained from the blood of people with a normal immune system) is given to provide the missing antibodies and thus help prevent infections. An antiviral drug (acyclovir) is given to prevent viral infections, and platelet transfusions are given to relieve bleeding problems.
If bleeding problems are severe, doctors may remove the spleen (splenectomy). However, this procedure is avoided if possible because it increases the risk of a serious blood infection (septicemia).
The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Immune Deficiency Foundation: Wiskott-Aldrich syndrome: Comprehensive information on Wiskott-Aldrich syndrome, including information on diagnosis and treatment and advice for people affected