Wiskott-Aldrich Syndrome

By | June 10, 2022

Wiskott-Aldrich syndrome is an inherited genetic defect that can only be cured by bone marrow transplantation. With an incidence of about 1:250,000, the disease is rare, with only boys being affected due to the X-linked recessive inheritance.

What is Wiskott-Aldrich Syndrome?

Wiskott-Aldrich syndrome is a rare genetic immunodeficiency that is inherited in an X-linked recessive manner. For definitions of lactose intolerance (milk sugar intolerance), please visit topbbacolleges.com.

Characteristic of the hereditary disease is a symptom triad of recurrent severe infections as a result of a disturbed immune system, increased bleeding tendency in thrombocytopenia (low and functionally restricted blood platelet count) and eczema, whereby the individual clinical symptoms can vary greatly from affected to affected.

As a rule, a Wiskott-Aldrich syndrome manifests itself immediately after birth or in newborn age in the form of punctiform skin hemorrhages (petechiae). As the disease progresses, bloody diarrhea and severe injury-related hemorrhage through to internal bleeding and cerebral hemorrhage can occur as a result of the coagulation disorder. In many cases, secondary autoimmune diseases can be observed in Wiskott-Aldrich syndrome. There is also an increased risk of malignant lymphoma.


Wiskott-Aldrich syndrome is due to a defect in a specific gene on the shorter arm of the X chromosome that encodes the defective protein (also known as WASP) responsible for the syndrome. The affected gene is important for the proper functioning of the cytoskeleton, which plays an essential role in the synthesis of platelets from the megakaryocytes (progenitor cells) and regulates communication and signal transmission between the immune cells.

On the one hand, the mutations cause a reduced number of thrombocytes, which also only have a limited functionality, which leads to an increased tendency to bleed with impaired blood clotting at the same time. On the other hand, the gene changes cause different defects on different immune cells, which lead to a disturbed signal exchange, a restricted function of the T cells and/or impaired production of antibodies.

As a result of the disturbed immune system, viral, bacterial and mycotic infections manifest themselves repeatedly, which can have a comparatively severe course in Wiskott-Aldrich syndrome.

Symptoms, Ailments & Signs

The Wiskott-Aldrich symptom is an immune deficiency. It is characterized by skin rashes, low blood platelet counts, and recurrent infections. Symptoms are caused by malfunctioning white blood cells and platelets. This leads to a dysfunction of the immune system.

The skin rashes are often confused with neurodermatitis. The reason for this is the similarity to atopic eczema. In contrast to neurodermatitis, eczema can occur in the first few weeks of life with the Wiskott-Aldrich symptom. In some cases, it is severe and the eczema can be accompanied by small skin bleeding (haemorrhagic eczema). In the case of the Wiskott-Aldrich symptom, the treated and healed eczema may reappear.

The low platelet count can lead to autoimmune diseases. These are characterized by the breakdown of red blood cells (autoimmune hemolytic anemia), inflammation of small blood vessels in the skin or organs (vasculitis), breakdown of blood platelets (immune thrombocytopenia) or nephritis or colitis, i.e. inflammation of the kidneys or large intestine.

Inflammation of the colon can cause bloody or painful diarrhea. Finally, there may be an increased susceptibility to infection. These diseases can be middle ear infections, sinus infections or similar.

Diagnosis & History

A Wiskott-Aldrich syndrome can usually be diagnosed on the basis of the clinical symptoms (primarily petechiae, eczema, recurrent infections).

The diagnosis is backed up by further blood tests, in the course of which a reduced number and reduced size of the thrombocytes can be determined. The antigen body level is also abnormal (increased IgE, IgD and IgA concentrations with a reduced IgM value). In older people affected, there is often a disturbed function of the T-lymphocytes.

In addition, the specific genetic defect in the WAS gene and thus the expected development of the Wiskott-Aldrich syndrome can be determined as part of the prenatal diagnosis. With successful bone marrow transplantation, Wiskott-Aldrich syndrome has a good prognosis and a high chance of recovery. However, without a transplant, life expectancy is around 10 to 20 years. There is also an increased risk of cancer here .


First and foremost, the Wiskott-Aldrich syndrome leads to very heavy bleeding under the skin. These can have a negative effect on the aesthetics of those affected, so that many patients are ashamed of the symptoms and feel uncomfortable with them. The syndrome can also lead to reduced self-esteem or an inferiority complex.

Bleeding can also occur in the internal organs. The blood is then often excreted during bowel movements or urination, so that those affected suffer from bloody bowel movements or bloody urine. Sometimes patients experience a panic attack. Furthermore, anemia sets in, which has a negative effect on the health of the person concerned.

There is permanent tiredness and exhaustion. The susceptibility to infections also increases and the immune system of those affected is significantly weakened by the Wiskott-Aldrich syndrome. The treatment of Wiskott-Aldrich syndrome is usually always based on the individual symptoms.

These can be limited with the help of medication, whereby there are no complications. Skin complaints can be reduced with the help of creams or ointments. As a rule, the life expectancy of the patient is not negatively affected by the disease.

When should you go to the doctor?

Immediately after the birth, the health of the mother and the newborn are checked by the attending team of obstetricians. Irregularities and abnormalities are documented and, if necessary, further medical tests are ordered. Under optimal conditions, the health peculiarities are already noticed and diagnosed in this phase. Parents or relatives therefore do not have to make any further efforts. However, if health discrepancies become apparent in the further course of development of the child, a doctor should be consulted.

Bleeding or discoloration of the skin is already a cause for concern. If blood is observed in the child’s excreta, a doctor should be consulted immediately. If the baby shows behavioral problems, is very restless or has disorders in the functioning of the organism, a doctor’s visit is necessary. A medical examination is necessary in the case of rashes on the skin, abnormalities in the movement sequences and an increased body temperature.

For a diagnosis to be made, the symptoms must be discussed with a doctor. Peculiarities of eating habits, sleep disturbances and irregularities in the reaction should also be clarified by a doctor. Eczema, as well as the development of edema on the body, are indications of an existing disease. If persistent or sudden recurring diarrhea is observed as the child grows and the child complains of abdominal pain, medical help is needed.

Treatment & Therapy

In the case of Wiskott-Aldrich syndrome, the therapeutic measures are aimed on the one hand at eliminating the cause as part of a causal therapy and on the other hand at treating the symptoms depending on the specific impairments present.

For example, infectious diseases in those affected by Wiskott-Aldrich syndrome should be treated early and consistently with antibiotics. If necessary, prophylactic antibiotic therapy is advisable. If the synthesis of antibodies is disturbed, subcutaneous or intravenous administration of immunoglobulins is recommended. Thrombocytopenia can be treated by drug therapy with cortisone or high-dose immunoglobulins.

Splenectomy (surgical removal of the spleen) can also be used to improve thrombocytopenia. In the case of life-threatening conditions as a result of pronounced bleeding, transfused platelet concentrates may be indicated. Creams and ointments that contain lipids and cortisone are used to minimize eczematic skin changes. Dietary measures such as avoiding food containing egg and cow’s milk can support the treatment of eczema.

A Wiskott-Aldrich syndrome can be treated causally in the context of a bone marrow transplant, in which the body’s own bone marrow is destroyed by chemotherapy and then replaced by healthy infused bone marrow. The best results can be achieved with early intervention (before the age of five). Gene or gene replacement therapy is another causal treatment method for Wiskott-Aldrich syndrome, which is still being clinically tested.


Since the Wiskott-Aldrich syndrome is a genetic disease, it cannot be prevented so far. To prevent infections, which can become serious, dead vaccines are recommended, while live vaccines such as mumps, measles, rotavirus or chickenpox should be avoided in the presence of Wiskott-Aldrich syndrome.


The Wiskott-Aldrich syndrome is a hereditary disease that cannot be treated causally so far. A causal treatment was only tested in a few studies, but for most patients this option is not an option due to the risks. As part of the aftercare, the course of the symptoms is checked in order to initiate further measures. Regular check-ups are necessary when medication such as co-trimoxazole or penicillin V is administered.

Once any of the symptoms have been cured, the doctor must regularly check the patient’s health after recovery to minimize the risk of severe internal bleeding and other complications. After an infection, the patient must first spend a few days in the hospital. Follow-up care is then necessary.

Follow-up care for Wiskott-Aldrich syndrome is provided by the responsible internist or another specialist. After an infection, several follow-up examinations are usually indicated. Depending on the severity of the infection, a longer stay in a clinic may be necessary. Accompanying this, therapeutic support for the patient may also be necessary. Psychological help is particularly useful because of the poor prognosis that is usually associated with Wiskott-Aldrich syndrome.

You can do that yourself

Wiskott-Aldrich syndrome initially requires medical diagnosis and treatment. The treatment of the condition can be supported at home by various measures.

First of all, it is important to carefully monitor the sick child. If typical symptoms such as painful eczema occur, the doctor must be informed immediately. Infections are usually treated with topical or systemic steroids. The most important self-help measure is to observe the patient and to inform the doctor of any side effects or interactions.

The Wiskott-Aldrich syndrome can take different courses, about which the relatives should inform themselves carefully. Slightly older children should be informed about their illness. The doctor can provide the most important information material and contact points. As a result, and thanks to comprehensive accompanying medical therapy, the patient is able to lead a relatively symptom-free life.

Regular research into new forms of therapy is also important. With regard to the Wiskott-Aldrich syndrome, gene therapies are currently being tested, which could prove to be effective in a few years. Patients can participate in testing programs or focus on symptomatic treatment. Which self-help measures make sense is discussed with the responsible specialist.

Wiskott-Aldrich Syndrome