Carrier detection in the Wiskott Aldrich syndrome

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...

[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

Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection.

A family in which two male siblings were affected with Wiskott-Aldrich syndrome (WAS) was studied using G-6-PD isoenzymes as an X-linked marker in order to investigate the nature of cellular abnormalities. Isolated peripheral blood cell types from the doubly heterozygous mother of the affected males seemingly failed to express the G-6-PD allele in cis position with the WAS allele while her cult...

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...