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Type I hypersensitivity
Type II hypersensitivity
Immune thrombocytopenic purpura
Autoimmune hemolytic anemia
Hemolytic disease of the newborn
Rheumatic heart disease
Type III hypersensitivity
Systemic lupus erythematosus
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Cytomegalovirus infection after transplant (NORD)
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Common variable immunodeficiency
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Blood transfusion reactions and transplant rejection: Pathology review
Immunodeficiencies: T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Phagocyte and complement dysfunction: Pathology review
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Wiskott-Aldrich syndrome p. 115, 720
Wiskott-Aldrich syndrome p. 115
labs/findings p. 720
X-linked recessive disorder p. 59
Wiskott-Aldrich syndrome p. 115
Samantha McBundy, MFA, CMI
Sam Gillespie, BScCharles Davis, MD
Wiskott-Aldrich syndrome is also called eczema-thrombocytopenia-immunodeficiency syndrome.
So, one by one, there’s eczema, also called atopic dermatitis, which is characterized by dry red patches arising on the skin.
There’s a type of thrombocytopenia called microthrombocytopenia because not only are there very few platelets, but the platelets are also small in size.
And there’s a problem with the immune system that leads to repeated infections.
All of the hematopoietic cells, which are cells in the bone marrow, produce Wiskott-Aldrich syndrome protein, or WASp for short.
There’s also a gene - called the WIPF1 gene, which encodes a protein called WAS/WASL-interacting protein family member 1, which helps stabilize Wiskott-Aldrich protein.
So WASp, aside from having a really long name that shortens down to the name of a scary flying insect - helps to reorganize the cell’s cytoskeleton, and therefore its overall shape.
The cytoskeleton can change by either adding to or removing actin proteins from the end of an actin chain.
The chain grows longer in the direction that a cell wants to move and shortens on the side that a cell wants to move away from.
This helps with various cellular activities like phagocytosis and cellular division.
Platelets specifically rely on this functionality, because they originate from large precursor cells called megakaryocytes.
This megakaryocyte has many long arms - like a squid - and the cytoskeleton changes shape so that these arms can detach to form cellular fragments called platelets.
The platelets then go off to form clots at damaged sites in the blood vessels, to stop bleeding.
Another cell type are the T-cells, which are a type of immune cell, also rely on the cytoskeleton being able to change shape.
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder that primarily affects males. The condition is caused by mutations in the WAS gene, which encodes for the Wiskott-Aldrich syndrome protein (WASP). The signs and symptoms of Wiskott-Aldrich syndrome can vary widely, but often include recurrent infections due to a weakened immune system, eczema, easy bruising or bleeding due to decreased platelets and abnormal clotting, autoimmune disorders such as rheumatoid arthritis or autoimmune hemolytic anemia, and increased risk of developing certain types of cancer, including lymphoma and leukemia.
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