[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Conditions](https://durgical.com/en/conditions/) › Wiskott–Aldrich syndrome [Conditions](https://durgical.com/en/conditions/) · [Pediatrics and neonatology](https://durgical.com/en/conditions/) # Wiskott–Aldrich syndrome A rare inherited disorder of boys with eczema, small and few platelets that cause bleeding, and a weak immune system with frequent infections. Updated 2026-11-01 ## Structures involved Tap one to see what it is and open it in 3D. - [Spleen](https://durgical.com/en/anatomy/spleen/) - [Skin](https://durgical.com/en/anatomy/skin/) - [Mesenteric lymph nodes](https://durgical.com/en/anatomy/superior-mesenteric-nodes/) - [Para-aortic lymph nodes](https://durgical.com/en/anatomy/intermediate-lumbar-nodes/) ## Why it happens - [Mendelian inheritance: autosomal dominant, recessive and X-linked](https://durgical.com/en/general-pathology/mendelian-inheritance-autosomal-dominant-recessive-and-x-linked/) - [Primary hemostasis and platelets](https://durgical.com/en/physiology/primary-hemostasis-and-platelets/) - [Innate and adaptive immunity: overview](https://durgical.com/en/physiology/innate-and-adaptive-immunity-overview/) - [Cytoskeleton: microfilaments, intermediate filaments, microtubules](https://durgical.com/en/histology/cytoskeleton-microfilaments-intermediate-filaments-microtubules/) ## What it is An X-linked primary immunodeficiency caused by mutations in the WAS gene. Its classic triad is eczema, thrombocytopenia with small platelets (microthrombocytopenia) and recurrent infections, with a high risk of autoimmunity and lymphoma. ## Who gets it Very rare: about 1 to 10 per million males worldwide, almost always boys. Bleeding usually appears in the first months of life. In Latin America, as elsewhere, it is often first mistaken for immune thrombocytopenia. ## Causes - Mutations in the WAS gene on the X chromosome, which encodes the WAS protein (WASP) - X-linked recessive inheritance; carrier mothers are usually healthy - Milder variants of the same gene cause X-linked thrombocytopenia ## Risk factors - Male sex - Family history of affected maternal male relatives ## Pathophysiology WASP regulates the actin cytoskeleton of blood cells. Without it, platelets are small and short-lived and are removed in the [spleen](https://durgical.com/en/anatomy/spleen/), causing bleeding. T cells, B cells, NK cells and phagocytes move and signal poorly, so antibody responses to polysaccharide antigens fail (low IgM), predisposing to encapsulated bacteria, viruses and opportunistic organisms. Defective regulatory T cells explain eczema and autoimmunity, and impaired immune surveillance raises the lymphoma risk. ## Classification - Classic Wiskott–Aldrich syndrome (full triad) - X-linked thrombocytopenia (mainly platelet disease, mild immune defect) - X-linked neutropenia (activating WAS mutations) ## Symptoms and signs - Bleeding from early infancy: petechiae, bruising, bloody diarrhoea, prolonged bleeding after circumcision - Eczema resembling atopic dermatitis, often severe - Recurrent otitis media, sinusitis and pneumonia - Infections by encapsulated bacteria, viruses (herpes) and Pneumocystis - Autoimmune disease: haemolytic anaemia, vasculitis, arthritis, [kidney](https://durgical.com/en/anatomy/kidney/) disease ## Red flags - Headache, vomiting, drowsiness or seizures in a child with very low platelets: intracranial haemorrhage - Boy with low platelets and eczema: check platelet size before assuming immune thrombocytopenia - Weight loss, persistent fever or enlarging lymph nodes: lymphoma - High fever after splenectomy: overwhelming sepsis ## Diagnosis **Clinical** Suspected in a boy with early bleeding, eczema and recurrent infections, especially with a family history on the mother's side. **Tests** Complete blood count with low platelet count and low mean platelet volume (small platelets on the smear); immunoglobulins typically show low IgM, normal IgG, and high IgA and IgE; poor antibody response to polysaccharide vaccines. Flow cytometry for absent WASP and WAS gene sequencing confirm it. **Imaging** Not needed for diagnosis; brain CT if intracranial bleeding is suspected and imaging for lymphoma when suggested by symptoms. ## Differential diagnosis - Immune thrombocytopenia (large platelets, no eczema or immunodeficiency) - Hyper-IgE syndrome (eczema and infections, normal platelets) - Severe atopic dermatitis with secondary infections - Other inherited thrombocytopenias ## Goal of treatment Prevent bleeding and infection, control eczema and autoimmunity, and offer curative cell therapy early. ## Treatment **Procedure** Haematopoietic stem cell transplantation is the curative treatment, best done early in childhood; gene therapy is available in some centres. **Medical** Immunoglobulin replacement and antibiotic prophylaxis (including against Pneumocystis); topical therapy for eczema; immunosuppressants for autoimmune disease. **Acute** Platelet transfusion for serious bleeding, using irradiated, filtered blood products. **Follow-up** Bleeding precautions (no antiplatelet drugs or intramuscular injections, careful handling), infection surveillance, avoidance of live vaccines, and screening for lymphoma. ## Complications - Intracranial and gastrointestinal haemorrhage - Severe and opportunistic infections - Autoimmune haemolytic anaemia and vasculitis - Lymphoma, often associated with Epstein–Barr virus - Post-splenectomy sepsis ## Prognosis Without curative treatment, survival into adulthood is limited by bleeding, infection and lymphoma. Stem cell transplantation in early childhood, ideally from a matched donor, gives long-term survival in most children. ## Prevention - Genetic counselling and carrier testing of female relatives - Prenatal diagnosis in families with a known mutation ## Test yourself Think of the answer, then tap the question to see it. ## What is the classic triad of Wiskott–Aldrich syndrome? Eczema, thrombocytopenia with small platelets, and recurrent infections. ## Which platelet finding distinguishes it from immune thrombocytopenia? Small platelets (low mean platelet volume); in immune thrombocytopenia they are normal or large. ## What is the typical immunoglobulin pattern? Low IgM, normal IgG, and raised IgA and IgE. ## What is the inheritance pattern and the defective protein? X-linked recessive; WASP, a regulator of the actin cytoskeleton. ## What is the only curative treatment? Haematopoietic stem cell transplantation (gene therapy in selected centres). [Add to my cards (5)](https://durgical.app/estudiar/?add=/en/conditions/wiskott-aldrich-syndrome/) ## Related conditions - [Atopic dermatitis](https://durgical.com/en/conditions/atopic-dermatitis/) - [Immune thrombocytopenia (ITP)](https://durgical.com/en/conditions/immune-thrombocytopenia/) - [Non-Hodgkin lymphoma](https://durgical.com/en/conditions/non-hodgkin-lymphoma/) - [Autoimmune haemolytic anaemia](https://durgical.com/en/conditions/autoimmune-haemolytic-anaemia/) - [Intracerebral haemorrhage](https://durgical.com/en/conditions/intracerebral-haemorrhage/) - [X-linked (Bruton) agammaglobulinaemia](https://durgical.com/en/conditions/x-linked-agammaglobulinaemia/) Educational information, not medical advice. For any symptom, see a health professional. Sources: [Wiskott-Aldrich syndrome: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome/) (MedlinePlus, US National Library of Medicine, 2026); [About Primary Immunodeficiency (PI)](https://www.cdc.gov/primary-immunodeficiency/about/index.html) (Centers for Disease Control and Prevention (CDC), 2026). [← All conditions](https://durgical.com/en/conditions/) ## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake Representative model, for educational purposes only. --- Source: https://durgical.com/en/conditions/wiskott-aldrich-syndrome/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/wiskott-aldrich-syndrome/