Which are the symptoms of Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder that primarily affects the immune system and blood clotting. It is characterized by a triad of symptoms including eczema, thrombocytopenia (low platelet count), and recurrent infections. WAS is caused by mutations in the WAS gene, which is responsible for producing a protein called WASP (Wiskott-Aldrich syndrome protein).

Eczema: One of the hallmark symptoms of Wiskott-Aldrich syndrome is eczema, a chronic skin condition characterized by itchy, red, and inflamed patches of skin. Eczema typically appears in infancy and can persist throughout life. The severity of eczema can vary among individuals with WAS, ranging from mild to severe. It commonly affects the face, scalp, and extremities.

Thrombocytopenia: Thrombocytopenia refers to a low platelet count in the blood. Platelets are crucial for blood clotting, and their reduced numbers can lead to easy bruising, prolonged bleeding, and spontaneous bleeding. Individuals with Wiskott-Aldrich syndrome often experience nosebleeds, gum bleeding, and gastrointestinal bleeding. They may also have petechiae (small red or purple spots) on the skin, which are caused by bleeding under the surface.

Recurrent infections: Wiskott-Aldrich syndrome significantly impairs the immune system, making affected individuals more susceptible to infections. Recurrent bacterial, viral, and fungal infections are common. These infections can affect various parts of the body, including the respiratory tract, skin, and gastrointestinal system. Ear infections, sinusitis, pneumonia, and meningitis are frequently observed in individuals with WAS. The severity and frequency of infections can vary, but they tend to be more severe and difficult to treat compared to individuals without the syndrome.

Aside from the triad of symptoms, there are other associated features that may be present in individuals with Wiskott-Aldrich syndrome:

Autoimmune disorders: WAS increases the risk of developing autoimmune disorders, where the immune system mistakenly attacks the body's own cells and tissues. Autoimmune conditions commonly associated with WAS include autoimmune hemolytic anemia, immune thrombocytopenic purpura, and vasculitis.

Malignancies: Individuals with Wiskott-Aldrich syndrome have an increased risk of developing certain types of cancers, particularly lymphomas and leukemias. Regular monitoring and early detection are crucial in managing this risk.

Allergies: Allergic reactions, including food allergies and asthma, are more prevalent in individuals with WAS. These allergies can further exacerbate the symptoms of eczema and respiratory issues.

Immunodeficiency: Wiskott-Aldrich syndrome leads to immunodeficiency, making individuals more susceptible to severe and recurrent infections. The immune system's ability to fight off pathogens is compromised, increasing the risk of life-threatening infections.

Abnormalities in blood cells: In addition to low platelet count, individuals with WAS may have abnormal white blood cells (leukocytes) and red blood cells. These abnormalities can further contribute to immune dysfunction and increase the risk of infections.

It is important to note that the severity and combination of symptoms can vary among individuals with Wiskott-Aldrich syndrome. Some individuals may have milder forms of the disorder, while others may experience more severe symptoms and complications. Early diagnosis and appropriate management are crucial in improving outcomes and quality of life for individuals with WAS.