| Diagnosis:
Ectodermal Dysplasia with a
Primary Immune
Deficiency caused by a mutation on the fourth part of the
NEMO gene. Treatment:
Stem cell transplant or
Gene Therapy.
ANDY's showing an incredible strength and hope to stay
alive.
Immune deficiency afflicts 1,000,000 Americans and 10
million world wide.(Source www.info4pi.org)
Primary Immunodeficiency, sometimes, do not have unique
symptoms of their own. Rather, they appear as
ordinary infections, often of
the sinuses, ears, or lungs. They can also cause gastrointestinal problems
or inflammation of the joints.
The infections can be chronic. This means they keep coming
back, sometimes frequently, and can be severe.
Also, they tend to require
prolonged recovery and may
respond poorly to a conventional course of antibiotics.
PI can strike males and females of any ages, though it
frequently presents itself early in life. The more severe forms of PI are
detecter most frequently in childhood.
Early diagnosis and treatment of
Primary Immunodeficiency
is essential to prevent the recurring infections from doing permanent
damage. Unfortunately, the lack of unique symptoms causes these diseases to
resemble a great number of other illnesses. Thus, families and doctors are
often unaware that the troubling conditions they are dealing with are
actually rooted in a defect of the immune system.
Primary Immunodeficiency is very different from Acquired
Immune Deficiency (AIDS) and they should not be confused with each other.
Although both involve the immune system, Primary Immunodeficiency is
genetic, or built into a person's body by their genes. AIDS, on the other
hand, is acquired by becoming infected by the HIV virus.
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