What are the three features of Wiskott-Aldrich syndrome?
Description. Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots .
How do you get Wiskott-Aldrich syndrome?
WAS is caused by mutations (or alterations) in the WAS gene which produces the Wiskott-Aldrich Syndrome Protein (WASp). The WAS gene is located on the short arm of the X chromosome so the disease is inherited in an X-linked recessive manner.
What are the symptoms of Wiskott-Aldrich syndrome?
Symptoms of Wiskott-Aldrich syndrome
- An increased tendency to bleed, caused by a significantly reduced number of platelets, typically affecting the face, brain and bowel.
- Recurrent viral, bacterial and fungal infections.
- Eczema and red patches on the skin ranging from mild to severe.
- Severe food allergies.
What does Wiskott-Aldrich syndrome protein do?
Wiskott-Aldrich syndrome protein (WASP) is an important regulator of the actin cytoskeleton that is required for many hematopoietic and immune cell functions, including cytoskeletal reorganization, immune synapse formation, and intracellular signaling.
What gene is mutated in Wiskott-Aldrich syndrome?
The gene responsible for WAS, the Wiskott-Aldrich Syndrome protein gene (WASP), was cloned and sequenced in l994. The WASP gene has 12 exons containing 1823 base pairs and encodes a 502-amino acid protein which is predominantly expressed in hematopoietic cells.
How does Wiskott-Aldrich syndrome affect T cells?
WASP deficiency results in significant abnormalities of T-lymphocyte numbers and function. In patients with WAS, TCR stimulation with anti-CD3 antibodies results in defective cell proliferation, interleukin-2 production, up-regulation of CD69, actin polymerization, CD3 internalization, and lipid raft clustering.
Is Wiskott-Aldrich syndrome autoimmune?
Wiskott–Aldrich syndrome (WAS) is an uncommon X-linked combined-immunodeficiency disorder characterized by a triad of thrombocytopenia, eczema, and immunodeficiency. Patients with WAS are also predisposed to autoimmunity and malignancy. Autoimmune manifestations have been reported in 26%–72% of patients with WAS.
Can females have Wiskott-Aldrich syndrome?
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by immunodeficiency, eczema, and thrombocytopenia with small platelets. The phenotype of affected males is usually severe, although female carriers of the disorder have no clinical signs of the genetic defect.
Is Wiskott-Aldrich syndrome Autoimmune?
What is the life expectancy of someone with Wiskott-Aldrich syndrome?
Life expectancy in treated individuals is around 20 years but without treatment is 3.5 years.
Is Wiskott-Aldrich an autoimmune disease?
Wiskott-Aldrich syndrome is a rare genetic disorder of the immune system that primarily affects boys. It is characterized by abnormal immune function and a reduced ability to form blood clots.