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CL3811 Applied Immunology




1. How
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
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
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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CL3811 Applied Immunology

linked recessive disease, this XLA disease is almost exclusively
a disease that affects men.

3. An example of a secondary (acquired) immunodeficiency

disease is caused by HIV. How does the virus infect the
HIV is a retrovirus which are RNA viruses, and the way it infects
a cell is by binding to a CD4 receptor and then releasing its
single stranded RNA genome containing nucleocapsid into the
host cell, which will then be reverse transcribed into dsDNA by
the enzyme reverse transcriptase, and then integrated into the
host genome. This viral DNA that is in the host genome can
then be transcribed to and translated into viral proteins and
assembled into new viral particles, that will bud off the host cell
and go on to infect other cells.
The enzymes involved are not present in the host cell and
therefore is brought in by the virus and it is found in the viral
capsid of HIV. The virus has 3 enzymes that it brings with it,
these enzymes are reverse transcriptase, integrase, and
4. How does the body become immune-deficient because of
this virus?
HIV virus specifically targets the CD4+ cells of the immune
system which includes CD4+ T cells and also dendritic cells and
macrophages as they also express CD4. HIV also targets CD4+
cells in the CNS.
This results in the body becoming immune deficient because
many CD4+ T cells die as a result of HIV infection and
eventually the immune system is no longer able to regenerate
or fight infections, and hence the patient becomes immune

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CL3811 Applied Immunology

5. How would you analyze the blood samples of 2 individuals

to show that one of them is HIV-positive and the other is
The protein that is detected in blood tests for HIV is the
antibody against the p24 capsid protein which is the protein that
constitutes the viral capsid of HIV. So if I can detect antibodies
against the HIV viral protein in one of the patients blood
sample when ELISA is performed, that would show that that
patient is infected with HIV, and hence is HIV positive. Whereas
if I cant detect the antibodies against the HIV viral protein, that
would show that the patient is not infected by HIV, and hence is
HIV negative.
This is because if a person was infected with HIV, the bodys
immune system would respond to the infection by producing
antibodies. These antibodies would be present in the patients
bloodstream for life as long as the patients immune system
remains functional and hence can be detected regardless of
time from infection.
6. What is the difference between HIV and AIDS?
HIV is the virus that causes acquired immune deficiency
syndrome. So the etiology or the cause is HIV whereas the
pathology or the disease that results from the end stage of HIV
infection is known as AIDS.
7. It is said that a HIV-positive individual dies from an
opportunistic infection rather than directly from the HIV
virus. Why is that so? What kind of opportunistic infection
could potentially kill a HIV-positive individual?
Once an individual is infected with HIV, what starts happening
is that the immune system starts destroying virus infected CD4+
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CL3811 Applied Immunology

T cells and the viruses in the infected cells. But then the virus
enters a dormant period of time known as clinical latency which
lasts for years. Eventually once the host immune system is no
longer able to fight off the HIV virus which occurs when the
population of CD4+ T cells falls to a critical level, the virus no
longer is latent and the HIV virus population starts increasing
largely because the body cant fight it off anymore due to low T
cell numbers. This phase is known as AIDS because now the
patient can be attacked by many opportunistic diseases due to
a deficient immune system, which includes diseases like
This is why the patient dies from an opportunistic infection
rather than the infection from the HIV virus because what the
HIV virus does is basically damage the immune system till a
point where other pathogens that cause opportunistic diseases
are able to cause disease in the host, which the host would
normally be able to defend against if it was not affected from
HIV prior to that opportunistic disease.

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