Friday, December 7, 2018

Wiskott-Aldrich syndrome

1)Wiskott-Aldrich syndrome is an X-linked recessive disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp).

2)All hematopoietic cells produce WASp protein, and there is WIPF1 that encodes WASp-interacting protein (WIP), a protein that stabilizes WASp. Both of these proteins are required to reorganize cell's cytoskeleton.



3)Its absence impairs the:
 (a)Formation of the immunologic synapse, the site of interaction between T cells and antigen-presenting cells leading to immunodeficiency.
 (b)NK cell function is impaired as a result of defective immune synapse formation on the cell surface which leads to increase risk of malignancy.
 (c)Regulatory T cells are incapable of controlling autoimmunity, so there is increased risk of Autoimmune disease.
 (d)Myeloid lineage cells exhibit impaired phagocytosis and chemotaxis - susceptible to recurrent pyogenic infections.
 (e)Impaired cytoskeleton in megakaryocytes → Decrease in size and number of platelets →microthrombocytopenia.

4)Clinical manifestations :
(a)Bleeding-microthrombocytopenia.
(b)Recurrent pyogenic infections.
(c)Eczema
(d)Increase in risk of autoimmune diseases and malignancy.

5)Laboratory findings :
(a)low to normal IgG and IgM and high IgA and IgE.
(b)Peripheral smear-Thrombocytopenia with small platelets.


Mnemonic: Remember the movie Antman and thewasp :p. So WASP helps you remember,
(1)WASp mutation  (2)wasp is a small bee like insect🐝→small platelets and if wasp bites, you get eczema(↑IgE).


SOURCE-UpToDate.

-Srikar Sama.

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