Wiskott-Aldrich Syndrome (WAS) (thrombocytopenia, Infection, Eczema)

By SWA

The Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive disorder characterized by the classic triad of thrombocytopenia (low platelet count), eczema (atopic dermatitis), and immunodeficiency, leading to increased susceptibility to infections. This condition is often abbreviated using various terms. Typically, WAS is not abbreviated as "TIE" (thrombocytopenia, infection, eczema). The reference seems to be an attempt to highlight the three main features of the syndrome:

Wiskott-Aldrich Syndrome (WAS) is caused by mutations in the WAS gene, which is located on the X chromosome (specifically at Xp11.23). The WAS gene encodes the Wiskott-Aldrich Syndrome Protein (WASP), which plays a crucial role in actin cytoskeleton reorganization and is important for cell signaling, movement, and the formation of immune synapses in hematopoietic cells (cells that give rise to blood cells). 

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome. https://pubmed.ncbi.nlm.nih.gov/10737997/ 

https://www.ncbi.nlm.nih.gov/snp/rs193922414
https://www.ncbi.nlm.nih.gov/snp/rs193922414#publications

  1. Thrombocytopenia: This refers to a lower-than-normal platelet count in the blood, which can lead to easy or excessive bruising and bleeding. In WAS, the platelets are not only fewer in number but are also smaller than normal (microthrombocytopenia), which impairs their ability to form blood clots.

  2. Infections: Individuals with WAS have a compromised immune system, making them more susceptible to infections. The immunodeficiency is primarily due to defects in both T and B lymphocytes, which are crucial for the body's defense against pathogens. Patients may experience recurrent bacterial, viral, and fungal infections.

  3. Eczema: Eczema, or atopic dermatitis, is a condition that makes the skin red and itchy. It's common in individuals with WAS and can vary in severity.

    The underlying cause of WAS is mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein (WASP). WASP is critical for actin cytoskeleton rearrangement in cells, which is important for cell signaling, movement, and the formation of the immune synapse. The absence or malfunction of WASP disrupts normal immune cell function and leads to the symptoms observed in WAS.

Management of WAS may involve measures to prevent and treat infections, strategies to manage eczema, and treatments aimed at correcting the thrombocytopenia, such as platelet transfusions. In severe cases, hematopoietic stem cell transplantation (HSCT) may be considered to correct the underlying immune defect. Gene therapy is also an area of ongoing research as a potential treatment for WAS.

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