Related Subjects:
|X linked Agammaglobulinaemia (Bruton)
|X-linked lymphoproliferative disease (Children)
|Chediak Higashi syndrome
|Common variable immunodeficiency
|Severe combined immunodeficiency disorders
|DiGeorge syndrome (thymic aplasia)
|Selective IgA deficiency
|Wiskott-Aldrich syndrome (Children)
|T lymphocytes
Consider Wiskott-Aldrich syndrome if a child presents with eczema, low platelets, and recurring infections.
ℹ️ About
- Wiskott-Aldrich Syndrome (WAS) is a rare, X-linked recessive disorder primarily affecting boys.
- The condition is characterized by defective platelets, leading to an increased risk of bleeding, infections, and haematological malignancies.
- It almost exclusively affects male children due to its X-linked inheritance pattern.
🧬 Aetiology
- WAS is caused by mutations in the gene on the X chromosome that codes for the Wiskott-Aldrich Syndrome Protein (WASP) .
- WASP is a cytoplasmic protein involved in the regulation of actin polymerization, which is essential for proper immune cell function.
- Mutations lead to defective cytoskeleton function, impairing cell shape changes after activation and cell motility, especially in immune cells.
🩺 Clinical Features
- Presents in male children with severe eczema , which may be difficult to control.
- Thrombocytopenia (low platelets) often results in bleeding symptoms, such as bloody diarrhoea or easy bruising.
- Recurrent bacterial, viral, and fungal infections due to immunodeficiency.
- There is an increased risk of developing haematological malignancies (e.g., lymphoma).
🔎 Investigations
- Immunoglobulin levels can vary, but typically there is low IgM and normal IgG.
- Lymphopenia and a reduced number of CD8+ T cells are seen in some cases.
- Prenatal diagnosis can be made via chorionic villus sampling (CVS) or amniocentesis to detect the genetic mutation.
💊 Management
- The best treatment is HLA-identical sibling bone marrow transplantation to restore immune function.
- Splenectomy may be considered to improve platelet counts in cases of severe thrombocytopenia.
- Intravenous immunoglobulin (IVIg) may be required to boost immune function and reduce infections.
