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Diagnosis of Wiskott-Aldrich syndrome
Last reviewed: 04.07.2025
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Because Wiskott-Aldrich syndrome has a wide spectrum of clinical manifestations, the diagnosis should be considered in all boys with bleeding, congenital or early thrombocytopenia. Infections and immunological disorders may be absent or, conversely, pronounced. Some patients may develop autoimmune diseases.
According to the diagnostic consensus adopted by ESID (European Society for Immunodeficiencies), the absolute criterion for the diagnosis of Wiskott-Aldrich syndrome is the detection of a significant decrease in the concentration of WASP protein in blood cells and/or the detection of a gene mutation.
Carriers of Wiskott-Aldrich syndrome do not show any symptoms of the disease. The number and size of platelets, as well as the number of lymphocytes, are within normal limits. In female carriers of the mutant WASP gene, non-random inactivation of the X chromosome is observed in all hematopoietic lineages, including stem cells (CD34+). This feature is widely used in the diagnosis of the disease.
The WASP gene mutation can also be identified in WAS mutation carriers. Similarly, prenatal diagnosis can be made by DNA analysis after chorionic villus sampling or amniocyte culture,
Differential diagnosis should include idiopathic thrombocytopenic purpura, which may be an independent disease or accompany other immunodeficiency states (eg, hyper-IgM syndrome). In addition, it is necessary to exclude other X-linked diseases associated with thrombocytopenia, such as X-linked thrombocytopenia with thalassemia. Chronic idiopathic intestinal pseudo-obstruction is also an X-linked condition and is often associated with thrombocytopenia. X-linked dyskeratosis congenita is characterized by pigmentary disorders, leukoplakia, increased incidence of tumors, lacrimal atresia, anemia, and thrombocytopenia. This disease is thought to be due to a mutation in the dyskerin gene.
Several cases of Wiskott-Aldrich syndrome in girls have been described. Girls with WAS symptoms were found to be heterozygous for a mutation in the WASP gene. The authors suggested that the manifestations of Wiskott-Aldrich syndrome in girls were due to a random coincidence of two events: a mutation in the WAS gene and a defect in X-chromosome inactivation.
Devriendt described a WASP mutation that resulted in severe congenital neutropenia. In this case, no platelet or other defects characteristic of classic WAS were noted.
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