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Blood and immune system diseases

Wiskott-Aldrich syndrome

An inherited disease involving immunodeficiency, a tendency to bleed and eczema.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Blood and immune system diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

In this disease, a protein called WASP is missing or does not work well. This protein helps blood cells move and do their job. Because of this, the immune system is weakened. Platelets (blood cells that help with clotting) are few and small.

Which symptoms can occur?

Symptoms often begin in infancy. How severe they are varies from person to person. There is also a milder type with only a low platelet count.

  • Easy bruising and red dots on the skin (common)
  • Bleeding from the nose and mouth (common)
  • Bloody diarrhea (sometimes)
  • Eczema, an itchy skin rash (common)
  • Repeated bacterial, viral and fungal infections (common)
  • Diseases in which the immune system attacks the body (sometimes)
  • A tendency to cancers such as lymphoma (cancer of the lymph glands) (sometimes)
  • Bleeding in the brain (rare but can be life-threatening)

How is it diagnosed?

Bleeding, eczema and infections raise suspicion. In a blood test, platelets are few and small. It can be shown that the WASP protein is low or absent. A genetic test confirms the diagnosis.

Treatment and care

Today, the only treatment that provides a lasting cure is a stem cell transplant. For infections, antibody (immune protein) support and medicines against infection can be used. There are supportive treatments for eczema and bleeding. Gene therapy is being researched. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through the X chromosome and mostly affects males. For each son of a carrier mother, the chance of having the disease is 50%. Women who are carriers often have no symptoms or only mild ones. Genetic counselling is recommended.

Source: MedlinePlus Genetics — Wiskott-Aldrich syndrome · Orphanet — Wiskott-Aldrich syndrome (ORPHA:906)

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Europe)
When does it usually start?
Newborn period, Infancy
Gene(s) involved
WAS

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Wiskott-Aldrich

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 5 active interventional studies for this disease. None is recruiting right now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:906

No separate ICD-11 code; WHO classifies this disease under: 3B62.0Y (Other specified inherited qualitative platelet defects)

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.