Wiskott-Aldrich Syndrome (WAS) is an immune disorder that affects a person’s ability to defend themselves from disease. It also makes them more prone to bleeding. The cells of the immune system and the cells that make up the blood all begin in the bone marrow. In a healthy individual, bone marrow stem cells can mature into functional components of the blood or immune cells.
In someone with WAS, bone marrow stem cells have trouble becoming platelets. Platelets are a component of the blood that help stop bleeding. Additionally, the bone marrow stem cells in someone with WAS mature into different types of immune cells like B cells and T cells. However, the immune cells don’t work well and are unable to help kill viruses and bacteria in the body.
WAS symptoms usually begin to show in the first year of life. The three universal symptoms of WAS are an increased tendency to bruise and/or bleed, frequent infections, and eczema. Eczema is a skin condition that causes dryness, itchy skin, and rashes. Other symptoms include:
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
The cause of WAS is a change, or mutation, in the WAS gene. The WAS gene is responsible for helping with the functions of the immune cells, red blood cells and platelets, a component of the blood. The WAS gene is located on the X-chromosome. Men have one X-chromosome and one Y, while women have 2 X-chromosomes.
Since men only have one X-chromosome, they only need to inherit one changed copy of the WAS gene in order to get the disease. On the other hand, women need to have one copy of the changed WAS gene on each of their two X-chromosomes in order to have WAS. This is called an X-linked recessive pattern of inheritance. While not every man with a family history of WAS will get WAS, men are much more likely to get WAS than women. Being a male assigned at birth and having a family history of WAS are the two risk factors for having the disease.
Physicians usually suspect WAS in children, especially male children, who bruise and/or bleed easily, frequently get infections, or have eczema. 3 tests can be done to help your doctor make a definitive diagnosis of WAS. Genetic testing will alert your doctor to a change in the WAS gene, blood testing can help your doctor visualise the lack of the WAS gene in immune cells, and blood testing can also reveal an abnormally low amount of platelets.
Complications of WAS include:
Treatment for WAS starts with preventative measures like wearing a mask, washing hands, and giving the child with WAS antibiotics and antiviral medications to prevent infection. It’s important that those living with WAS follow their doctor’s recommendations on which vaccines are safe to receive and which may be too much for a compromised immune system to handle.
Preventing unnecessary bleeding and/or bruising is also an important part of life with WAS, from wearing a helmet to avoiding contact sports. Long-term treatments that have helped WAS patients include infusions of antibodies and bone marrow transplants to stimulate production of healthy immune cells and platelets. Antibodies are produced by B cells, and they latch on to foreign objects like bacteria and mark them for death. However, WAS patients don’t have functional B cells and often don’t produce enough antibodies.