Download Severe combined immune deficiency syndrome

SEVERE COMBINED IMMUNE
DEFICIENCY SYNDROME
(SCID, SCIDS, XSCID)
SUDHA KOLLA
HISTORY
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“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
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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 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
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)