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Severe combined immune deficiency syndrome (SCID, SCIDS, XSCID)

Severe combined immune deficiency syndrome (SCID, SCIDS, XSCID). SUDHA KOLLA. HISTORY. “Bubbly boy disease” Known and discovered in 1970’s and 80’s David Vetter X – linked syndrome Wore a plastic germ free bubble for 12 years Born without a working immune system Gene mutation

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Severe combined immune deficiency syndrome (SCID, SCIDS, XSCID)

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  1. Severe combined immune deficiency syndrome (SCID, SCIDS, XSCID) SUDHA KOLLA

  2. HISTORY • “Bubbly boy disease” • Known and discovered in 1970’s and 80’s • David Vetter • X – linked syndrome • Wore a plastic germ free bubble for 12 years • Born without a working immune system • Gene mutation • Bubble = protect from outside environment • David Vetter’s brother had same disease • Bone Marrow Transplant = Victor = death • Bone Marrow Transplant was to help Victor gain strength to fight infection • Died in 1984

  3. How It Occurs • Gene mutation • Lymphocytes (type of white cells)  Thymus Gland • T-cells  kill antigens B-cells (killer of antigens)  attack healthy cells (healthy antigens)  weak immune system • Genetic = defect in the “X” chromosome

  4. Can it passed?

  5. Karyotype/Gene/Chromosome Male Karyotype Chromosome: 23

  6. Symptoms of SCIDS • 1. pneumonia - infection of the lungs. • 2. meningitis - infection of the brain. • 3. sepsis - infection in the bloodstream. • 4. yeast infections in the mouth and diaper area • 5. Diarrhea • 6. infection of the liver • 7. Eight or more ear infections • 8. Infections that do not resolve with antibiotic treatment for two or more months • 9. Failure to gain weight or grow normally • 10. Infections that require intravenous antibiotic treatment • 11. Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver • 12. Persistent thrush in the mouth or throat • 13. A family history of immune deficiency or infant deaths due to infections

  7. Diagnose SCIDS • DNA  Family mutation • T & B cells function • Blood tests • Automated Screening

  8. Cure SCIDS • Transplantation of blood-forming stem cells bone marrow • Tissue matching from relative = ¼ • Anonymous donor = very common • HLA = Human Leucocyte Antigen • HLA = bone marrow transplantation type = cheotheraphy = bone marrow rescue

  9. Bibliography (ON THE SEPARATE PAPER)

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