Wiskott-Aldrich Syndrome Presentation
Transcript of Wiskott-Aldrich Syndrome Presentation
8/10/2019 Wiskott-Aldrich Syndrome Presentation
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WISKOTT-ALDRICHSYNDROME
GROUP 8
RACHEL ALFARO
ALETHEA MENDOZA
JONNABELLE LACAP
LEAH MAGTALAS
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Introduction:
History:
Alfred Wiskott (1937)
Robert Anderson (1954) - X-linked recessive
Primary Immune Deficiency
Diseases (1960’s)
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What is Wiskott-Aldrich
syndrome? Immune deficiency
Reduced ability of blood clots
Increased risk of inflammatory andimmune disorders
Causes greater risk of AutoimmuneDisorders
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1-10 cases/million males
Rare in females
Absence of WASP (Wiskott-AldrichSyndrome Protein)
Missense and frameshift mutations
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Symptoms:
Microthrombocytopenia (decreasednumber and size of platelets)
Easy bruising
Prolonged bleeding followed by trauma
Recurrent diseases
Eczema
Malignancies in leukemia and lymphomaoccur in severe cases
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Affected Cells:
T Lymphocytes:
o Causes recurrent viral and fungal
infections
B Lymphocytes:
o Causes recurrent bacterial infectionsbecause proper antibodies are notproduced against certain bacteria.
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Gene Location:
Cytogenetic Location: Xp11.4-p11.21
Molecular Location on the X chromosome: basepairs 48,683,796 to 48,691,426
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The WAS gene is located on the short (p)arm of the X chromosome betweenpositions 11.4 and 11.21.
More precisely, the WAS gene is locatedfrom base pair 48,683,796 to base pair
48,691,426 on the X chromosome.
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Proposed Treatment
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1.Genetic Analysis
Detection of mutated gene
PCR and Karyotyping
Shows result in a screen
Positive or negative
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2. Genetic Therapy
Gene Therapy is a treatment that
involves altering the genes inside
your body's cells to stop thedisease. With the use of our
machine we will know what gene is
affected and will see what form of
gene therapy to be use.
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Our machine uses the form of gene
therapy which directly correct a
mutation, or use DNA that encodes atherapeutic protein drug (rather than
a natural human gene) to provide
treatment.
In gene therapy, DNA that encodes a
therapeutic protein is packaged within
a "vector ", which is used to get theDNA inside cells within the body.
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Our machine uses one specificvector:
Recombinant viruses-(sometimes
called biological nanoparticles orviral vectors) it removes the viral DNA
and uses the virus as a vehicle to
deliver the therapeutic DNA.
and adeno-associated virus.
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Example:
For example the machine is required touse Lentiviral vector as a treatment. Themachine process the patients' own bloodstem cells and, then used the lentiviral
vector combined with the normal WASPgene to correct the genetic defect in theblood. After a special treatment toeliminate their defective immune system,
they received their own blood cells thathad been altered to contain the normalWASP gene
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Sources:
http://dentistryandmedicine.blogspot.com/2011/
09/wiskott-aldrich-syndrome-x-linked.html http://ghr.nlm.nih.gov/condition/wiskott-aldrich-
syndrome
http://ghr.nlm.nih.gov/gene/WAS
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