SUDHA KOLLA

SEVERE COMBINED IMMUNE DEFICIENCY

SYNDROME (SCID, SCIDS, XSCID)

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

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

Can it passed?

Karyotype/Gene/Chromosome

Male Karyotype

Chromosome: 23

Symptoms of SCIDS1. 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 area5. Diarrhea6. infection of the liver

7. Eight or more ear infections8. Infections that do not resolve with antibiotic treatment for two or more months9. Failure to gain weight or grow normally10. Infections that require intravenous antibiotic treatment11. Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver12. Persistent thrush in the mouth or throat13. A family history of immune deficiency or infant deaths due to infections

Diagnose SCIDS

• DNA Family mutation• T & B cells function• Blood tests• Automated Screening

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

Bibliography (ON THE SEPARATE PAPER)