Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations

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...

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. ...

Wiskott-Aldrich syndrome with macrothrombocytopenia.

BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. CASE CHARACTERISTICS 3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome. OBSERVATION Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. OUTCOME Maternally inherited...

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.

Severe congenital neutropenia (SCN) is characterized by neutropenia, recurrent bacterial infections, and maturation arrest in the bone marrow. Although many cases have mutations in the ELA2 gene encoding neutrophil elastase, a significant proportion remain undefined at a molecular level. A mutation (Leu270Pro) in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) resulting in an X-li...