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144590A
Questions
1. How
do
you
differentiate
between
a
primary
immunodeficiency disease and a secondary (acquired)
immunodeficiency disease?
Primary immunodeficiency disease is a congenital disease that
is hereditary, that is it is inherited from the genome of the
parents. These diseases tend to be single gene defects.
Secondary immunodeficiency disease is a disease that can be
acquired during a persons lifetime, such us through infections
like HIV infection.
2. Describe an example of a primary immunodeficiency
disease.
An example of a primary immunodeficiency disease is X-linked
agammaglobulinemia (XLA) which is a disease where there is a
gene mutation (BTK gene) on the X chromosome which results
in no antibodies in the blood. In XLA, the maturation of B cells
stops at the Pre-B cell stage. This is due to mutations in the
gene that codes for an enzyme called Bruton tyrosine kinase
(BTK). This enzyme is very important for the development and
normal functioning of the B-cell receptor, therefore in XLA this
enzyme is mutated and therefore is ineffective. Because of this
ineffective BTK enzyme, B cell maturation gets stopped at the
Pre-B cell stage which means that no B cells leave the bone
marrow.
So ultimately people with XLA completely lack or have much
fewer circulating nave B cells. And since B cells once activated
will differentiate into antibody secreting plasma cells, these
patients with XLA also lack circulating antibodies of all classes
and are therefore in high risk of getting infections. Also,
because men have only 1 X chromosome and that XLA is an X-
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