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Submitted to:
Sir Rajeev Kant
Submitted by:
Sentirenla Longchar
B.tech (Biotechnology)
7TH Semester
I.D-12BTBIOT007
Most individuals with ADA deficiency are diagnosed with SCID in the first six
months of life. Without treatment, theses babies do not usually survive past age
Genomic location:
Start: 44,619,519 bp from pter and 44,652,233 bp from pter
Size: 32,715 bases
Orientation: minus strand
Symptoms:
Because ADA deficiency affects the immune system, people who have the disorder
are more susceptible to all kinds of infections, particularly those of the skin,
respiratory and gastrointestinal tract. They may also be shorter than normal. Sadly
most babies are born with a disorder die within a few months.
Diagnosis:
Doctors can identify ADA deficiency during mothers pregnancy by:
(1) By taking a tiny sample of tissues from the amniotic sac where the baby
develops
(2) By looking at enzyme level fetal blood samples from the umbilical cord. After
the child is born, doctors can test a sample of his or her blood if it contains ADA.
Treatment:
There are no real cures for ADA deficiency but doctors have tried to restore ADA
levels and improve immune system functions with a variety of functions:
Bone marrow transplantation from a biological match(for example a
sibling) to provide healthy immune cell
Transfusions of red blood cells (containing high levels of ADA) from a
healthy donor
Enzyme replacements therapy involving repeated injections of the ADA
enzyme
Gene therapy/ to insert synthetic DNA containing a normal ADA gene into
immune cells