Wiskott-Aldrich syndrome 2

Wiskott-Aldrich syndrome 2 is a condition caused by mutations in the WIPF1 gene that affects the immune system. Individuals with this condition typically present with abnormalities in immune function, as highlighted by their susceptibility to recurrent infections and skin issues. It is inherited in an autosomal recessive manner, meaning both copies of the gene must be altered for the condition to manifest. Precise prevalence data is not available, and as such, its occurrence in the population is not well established.

The clinical presentation of Wiskott-Aldrich syndrome 2 is marked by a consistent set of immune-related features. Affected individuals almost always exhibit abnormal natural killer cell physiology, recurrent infections, and eczematoid dermatitis. In addition, abnormal T cell proliferation, thrombocytopenia, and a decreased proportion of CD8+ T cells are universally observed. Not all individuals experience all features to the same degree, and severity varies considerably between affected persons.

This condition is caused by mutations in the WIPF1 gene, which plays a crucial role in the regulation of the actin cytoskeleton in immune cells. Disruption of this gene's normal function impairs various immune processes, contributing to the characteristic features of the syndrome. Wiskott-Aldrich syndrome 2 is inherited in an autosomal recessive pattern, meaning that an individual needs to inherit two altered copies of the gene—one from each parent—to be affected. Families with a history of the condition are encouraged to seek genetic counseling for further guidance. Associated genes include WIPF1.