Clinical Genetics Made Simple : X - linked Disorders : Wiskott - Aldrich Syndrome

 X - linked Disorders : Wiskott - Aldrich Syndrome :

This is an X linked disorder.

Mutations in the WASP gene on short arm of X chromosome are responsible for this disease.

It is characterized by eczema,thrombocytopenia and repeated infections.

Affected children may present with bleeding and often succumb to complications of bleeding,infection or lymphoreticular malignancy.

The platelets are small,have a shortened half-life and appear to be deficient in surface sialophorin ( CD43).

Splenectomy can correct the thrombocytopenia but not the immune defect.

Serum IgM is usually decreased while IgE is frequently increased.


Other diseases with immune defects include :

Selective IgA deficiency.

DiGeorge Syndrome :

Characterized by developmental malformation leading to thymic aplasia and hypoparathyroidism.


Ataxia Telangiectasia :

An autosomal recessive disease characterized by progressive cerebellar dysfunction,telangiectasias and a variable immunodeficiency.

Acquired Hypogammaglobulinemia:

This disease is seen in adults.
It ischaracterized by normal number of B cells but low immunoglobulin production.