Genotype-Proteotype Linkage in the Wiskott-Aldrich Syndrome

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

Unraveling the Repertoire in Wiskott–Aldrich Syndrome

Human immunology is entering the next frontier. With the fast developing technology, we can today sequence the whole genome from an individual in a relatively short time. It is now possible to decipher pathological mechanisms in immunological diseases, including primary immunodeficiencies, with high specificity. A particularly interesting aspect to study is the development and maintenance of th...

Carrier detection in the Wiskott Aldrich syndrome.

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease characterized by immunodeficiency and severe thrombocytopenia in affected males, but no demonstrable clinical abnormalities in carrier females. Through analysis of the methylation patterns of X-linked genes that display restriction fragment length polymorphisms (RFLPs), we studied the pattern of X-chromosome inactivation in var...

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...