SCID
Published on Nov 20, 2015
No Description
MORE DECKS TO EXPLORE
PRESENTATION OUTLINE
Savannah Ancarrow
Presentation on SCID
Severe Combined Immune Deficiency
- SCID is a group of very rare—and potentially fatal—inherited disordersof the immune system
What other names are there for the disorder?
- Alymphocytosis
- Glanzmann-Rinker Syndrome
- Severe Mixed Immunodeficiency
- Thymic Alymphoplasia
- Bubble Boy Disease
What causes the disorder?
- Mutation
- Depending on the type of SCID, B cells and NK cells can also be affected.
- Other forms of SCID are caused by a deficiency of the enzyme adenosine deaminase (ADA) and a variety of other genetic defects
- SCID is caused by a genetic defect that affects the function of T cells
How is it inherited?
- The condition is inherited in an X-linked recessive pattern.
What gene or chromosome is affected by this disorder?
- X-Chromosome
How is the disease diagnosed?
- The most common screening methods are an immune function test
- a blood test that detects low white blood cell counts, as well as low levels of immune cells
Are there prenatal tests for this disorder, if so what are they?
- By removing and testing cells from the placenta
- By removing and testing a sample of the fluid surrounding the baby.
What is the life expectancy of someone with the disease?
- Children with the disease aren't likely to live past age 2.
What are the symptoms, side effects or harm does it cause on the human body?
- frequent and often very severe respiratory infections
- SCID in infants include poor growth
- recurrent thrush in the mouth
- Often, SCID is associated with recurrent viral infections and causes several hospitalizations
- pneumocystis pneumonia
Can anyone be a candidate for the disorder?
- When a gene is located on the X chromosome, males are more often affected than females
- Males do not have a second X chromosome to compensate for the defective one
- About 1 out of every 100,000 babies is born with SCIDAdd another list item here
Are there any treatments, medications, or therapies
- The most effective treatment is a bone marrow transplant
- Medications – especially antibiotic, antifungal, and antiviral medications to treat or prevent active infections
- Add aAvoiding exposure to infections, especially ones that may be difficult to eradicate, such as chicken poxnother list item here
- Use immunoglobulin supplementation (IVIg)
- Add anoEnzyme replacement therapyther list item here
Could this disorder have been prevented?
- No, this disorder can not be prevented
- Yes there is genetic testing to determine if you are a carrier of the trait
Can this individual have children in the future?
- Yes, can have children
- Yes, can be passed to their children
Are there any cures?
- Yes, if diagnosed early
