1. SUDHA KOLLA

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

5. How It Occurs Gene mutation Gene mutation Lymphocytes (type of white cells)  Thymus Gland 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 Genetic = defect in the “X” chromosome

8. Can it passed?

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

10. 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

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

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

15. Bibliography (ON THE SEPARATE PAPER)