Severe combined immunodeficiency (scid)
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Transcript of Severe combined immunodeficiency (scid)
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SEVERE COMBINED IMMUNODEFICIENCY (SCID)
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Is a primary Immunodeficiency
Often called “Bubble Boy Disease”
SCID became widely known during the
1970’s and 80’s, when the world
learned of David Vetter, a boy with X-
linked SCID, who lived for 12 years in a
plastic, germ-free bubble.
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CAUSE/ ETIOLOGY
Mutations in several different genes cause SCID
There is a complete block in the development
of T-cells, and thus complete lack of help for B-
cells
Depending on the particular gene defect, B-
cells and/or NK cells may also be absent
Caused by a deficiency of an enzyme which is
necessary for lymphocytes to develop
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CHARACTERISTICS
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CHARACTERISTICS
Morbilliform Rash
Diaper Rash
Oral Thrush
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LABORATORY DIAGNOSIS
Early diagnosis of SCID: WBC count in
newborn
Newborn Screening
Blood tests
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TREATMENT Supportive Treatments
Antibiotics Intravenous Immunoglobulin (IVIg) Weekly injection of enzyme (life time) Blood transfusion Admission in an isolated room
Curative Treatments Stem cell transplant Bone marrow transplant
**Gene therapy