Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages

Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages.

Wiskott-Aldrich syndrome protein (WASp) is a hematopoietic-specific, multidomain protein whose mutation is responsible for the immunodeficiency disorder Wiskott-Aldrich syndrome. WASp contains a binding motif for the Rho GTPase CDC42Hs as well as verprolin/cofilin-like actin-regulatory domains, but no specific actin structure regulated by CDC42Hs-WASp has been identified. We found that WASp col...

Wiskott-Aldrich Syndrome Protein (WASP) Syndrome Impair the Interaction of Mutations That Cause the Wiskott-Aldrich

[The Wiskott-Aldrich syndrome].

can occur, the observed improvement cannot necessarily b)e attributed to the transfer factor. However, in two patients repeated remissions consistently followed transfer factor administration on repeated occasions. This included freedom from infections, regression of splenomegaly, and clearing of eczema. An unexpected finding was a decrease in bleeding in 3 of the 10 patients who had bleeding. ...

Primary Malignant Reticulosis of the Brain in Wiskott-Aldrich Syndrome

In 1937 Wiskott originally described the combination of eczema, thrombocytopenia, and increased susceptibility to infection in 3 brothers. Aldrich, Steinberg, and Campbell (1954) subsequently characterized this syndrome as a sex-linked recessive disorder, describing a family which included 40 males, 16 of whom died in infancy, and 10 of whom were known to have had eczema, otitis, and bloody dia...

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are rare X-linked genetic disorders caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene. Both disorders are clinically characterized by chronic thrombocytopenia of small platelets. WAS is a more severe form of the disorder and also courses with eczema, and immune dysfunction. In the present study, we investig...