the wiskott aldrich syndrome an x linked primary immunodeficiency l.
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The Wiskott-Aldrich Syndrome: An X-linked Primary Immunodeficiency. Kristin Goff. WAS. Primary immune deficiency disorder Entails part of the bodies immune system is missing or does not function properly Caused by genetic defects in the immune system X-linked recessive trait

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Presentation Transcript
slide2
WAS
  • Primary immune deficiency disorder
    • Entails part of the bodies immune system is missing or does not function properly
    • Caused by genetic defects in the immune system
  • X-linked recessive trait
    • Genetic defect causing deficiency is on the X-chromosome
    • Only affects males and is passed to child from the mother, a healthy carrier of the disorder
symptoms
Symptoms
  • Thrombocytopenia (low platelet count and disturbed platelet function)
  • Recurrent infections
  • Eczema
  • Malignancies in the form of leukemia and lymphoma occur in more severe cases
history
History
  • First described by German physician Alfred Wiskott in 1937
  • Robert Anderson Aldrich described the disease as an X-linked recessive trait in 1954
  • Joined the list of Primary Immune Deficiency Diseases in the 1960’s
mutations
Mutations
  • WAS is associated with the absence of the Wiskott-Aldrich Syndrome protein (WASP) which is caused by simple mutations in the WASP gene
  • Missense and frameshift mutations are two known to cause WAS
slide10

A missense mutation has the ability to

change one amino acid into a different

amino acid, altering the protein and

possibly causing it to be nonfunctional.

A frameshift mutation deletes a DNA

base, shifting the entire sequence

and changing the amino acids from

that point on. In this case, the

Mutation turns an amino acid in

the protein sequence into a stop

codon and translation of the protein is

prematurely ended.

actin reorganization
Actin Reorganization
  • WASP is involved in the reorganization of the actin skeleton. When the WAS protein is altered, it does not properly bind and actin reorganization is prohibited.
affect on t lymphocytes
Affect on T Lymphocytes
  • Cytoskeleton reorganization is involved in the binding of T lymphocytes to antigen-presenting cells through CD3 crosslinking.
  • Without actin reorganization, CD3 is not properly presented at the cells surface and the T cell is not activated.
  • Causes recurrent viral and fungal infections (as noted in symptoms).
affect on b lymphocytes
Affect on B Lymphocytes
  • Thymus dependent B lymphocytes need T cells for activation and differentiation.
  • B cells only able to produce IgM through thymus independent B lymphocytes.
  • Causes recurrent bacterial infections because proper antibodies are not produced against certain bacteria.
treatment
Treatment
  • Intravenous immunoglobulin substitution
  • Specialized antibiotics
  • Splenectomy
  • Hematopoietic stem cell transplantation
was discovered in females
WAS Discovered in Females
  • Skewed X-chromosome inactivation in a female carrier can cause the typically healthy female to exhibit clinical signs of the disorder.
  • Causes the X-chromosome carrying the normal WASP gene to become inactivated so only the X-chromosome with the mutant WASP gene is left active.
summary
Summary
  • WAS is caused by a mutation in the WASP gene.
  • A mutation in the WASP gene inhibits actin reorganization.
  • Without actin reorganization, CD3 cannot be presented and T cells are not activated.
  • Thymus dependent B cells are not activated without production of T cells.
  • B cell differentiation does not occur and only IgM antibodies are produced.