EX2 Immunodeficiency Diseases - Powell Flashcards
This type of immunodeficiency is caused by genetic defects that result in an increased susceptibility to infection
primary or congenital immunodeficiency
What are the four main factors that can lead to secondary or acquired immunodeficiency
malnutrition
disseminated cancer
immunosuppressive drugs
infection of immune system cells
Which type of immunodeficiency are frequently manifested in children and affect about 1/500 people in the USA
primary or congenital immunodeficiency
This is vital for the defense against infectious organisms and their toxic products
the integrity of the immune system
These are conserved across widely diverse species and any loss-of-function mutation has negative consequences for survival
Toll-like receptors
True or False
primary immunodeficiencies may affect one or more components of the immune system (T-cells, B-cells, NKs, etc.)
True
With primary immunodeficiency, it may result from what defects
defects in leukocyte maturation or activation or from defects in effector mechanisms of innate and adaptive immunity
What is the principal consequence of an immunodeficiency disease
increased susceptibility to infection
The nature of the infection in a particular patients depends largely on what
the component of the immune system that is defective
A deficient humoral immunity will result in what
increased susceptibility to infection by pyogenic bacteria
With X-linked Agammaglobulinemia, this is very low, these are usually absent, and these are present but in reduced numbers
all antibody isotopes are very low
circulating B cells are usually absent
pro-B cells are present but reduced numbers in bone marrow
What physical attribution are associated with X-linked agammaglobulinemia
tonsils are very small
lymph nodes are barely palpable
thymus is normal (as are other T cell centers)
X-linked agammaglobulinemia’s defect is associated with
loss of function of the Bruton Tyrosine Kinase that is important for pre-B cell expansion and maturation into Ig-expresion B cells
Deficient cell-mediated immunity will result in what
increased susceptibility to viruses and other intracellular pathogens
True or False
There are many different treatments for defects associated with deficient T cell responses
False; there are few, if any treatments
True or False
It is rare that patients with absolute defects in T-cell function survive beyond infancy or childhood
True
DiGeorge’s syndrome is a developmentally-related disease where what fails to develop
the thymus
What is increased in DiGeorge’s syndrome, and also impaired
the percentage of B cells increases, but the function is impaired only to the extent of needing helper T cells
What is the outcome of patients with DiGeorge’s syndrome
most infants die from infections, and those who make it past infancy usually develop some kind of mental retardation
True or False
Severe combined immunodeficiency (T cell and B cell deficiencies) are rare and fatal
True
True or False
X-linked SCID (XSCID) is the most common x-linked recessive severe combined immunodeficiency disease, accounting for approximately 42% of cases
True
X-linked SCID patients develop what and lack this
develop persistent infection with opportunistic organisms
lack the ability to reject foreign tissues; at risk for GVHD
X-linked SCID patients have few or no what (2), but an elevated percentage of this
T cells and NK cells B cells (but they do not produce Ig)
What are the aims of immunodeficiency treatments
to minimize and control infections
to replace the defective or absent components of the immune system by adoptive transfer/transplantation
