wiskott aldrich syndrome Flashcards
primarily affects boys + reduced ability to form blood clots
Wiskott-Aldrich syndrome
mutations in the
gene encoding
Wiskott-Aldrich syndrome protein (WASP)
regulating the cytoskeleton of blood cells
Wiskott-Aldrich syndrome protein (WASP)
X-Linked Hereditary Disorder
Eczema-thrombocytopenia immunodeficiency syndrome
Aldrich’
s Disease
Immunodeficiency 2
Wiskott Syndrome
WISKOTT ALDRICH SYNDROME
Wiskott
Aldrich
Immunodeficiency
Thrombocytopenia
Eczema
Recurrent bacterial, viral, and fungal infections
MNEMONICS
“WAITER”
inherited in an X-linked recessive manner.
This means that the gene mutation responsible for the disorder is located on
the X chromosome
Wiskott-Aldrich syndrome (WAS)
If a boy inherits the mutated gene from his mother, he’ll have Wiskott-Aldrich
syndrome because he has only one X chromosome.
Wiskott-Aldrich syndrome (WAS)
X-linked recessive, it primarily affects males,
while females can be carriers or, in some cases, exhibit milder symptoms
Wiskott-Aldrich syndrome
Which would be consistent with a mechanism of peripheral
destruction of platelets
SPLENECTOMY
May be needed to treat hemorrhagic episodes.
PLATELET TRANSFUSION