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Chapter 14: Genetics, Altered Immune Responses, and Transplantation

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Genetic disorders can be categorized into what 3 disorders.
autosomal dominant,
autosomal recessive,
sex-linked (X-linked) recessive
caused by a mutation of a single gene pair (heterozygous) on a chromosome.
autosomal dominant
caused by a mutation in two gene pairs (homozygous) on a chromosome.
autosomal recessive
caused by a mutation on the X chromosome.
sex-linked (x-linked)
name the 4 types of genetic testing
direct testing,
linkage testing,
biochemical testing,
karyotyping.
An experimental technique used to replace or repair defective or missing genes with normal genes.
gene therapy
cells in the body that have the ability to differentiate into other cells
stem cells
what are the 2 types of stem cells
embryotic
adult
state of responsiveness to foreign substances such as microorganisms and tumor proteins
immunity
Immune responses serve what three functions:
defense, homeostasis, and surveillance.
how many autosomes are there?
22
how many sex chromosomes are there
1
oncogene
gene that is able to initiate and contribute to the conversion of normal cells to cancerous cells
direct testing examines
the DNA
keryotype examines
the number, form, size and arrangement of chromosomes
what is the genetic test for breast cancer
BRCA-1 and BRCA-2
what do all states genetically test every newborn for
phenylketonuria
congenital hypothyroidism
Innate immunity-define, and what type of response
exists in the body without any prior contact with the antigen
non-specific
Active aquired immunity
develops antibodies to new invaders (antigens) from either disease or inocculation with antigens
passive aquired immunity
host receives antibodies rather than making them (mother, injection)
name the central lymphoid organs
thymus gland
bone marrow
name the peripheral lymph organs
tonsils
gut
genital
bronchial
skin
lymph nodes
spleen
where are lymphocytes made and shipped to
bone marrow
thymus
if this is depleted, the skin cannot mount an immune response
langerhan's (dendrites)
The important primary site for filtering foreign substances
the spleen
the major site of immune response to blood borne antigens
spleen
what two types of tissue does the spleen consist of
white pulp containing B and T lymphocytes
red pulp containing erythrocytes
These guys are responsible for capturing, processing, and presenting the antigen to the lymphocytes
mononuclear phagocytes
what are the lyphocytes called when they are shipped to the thymus
T-cells (thymus dependent cells)
all mature t-cells have what antigen
CD3
CD8
T cytotoxic
attack foriegn antigens and release deadly cytolytic agents
CD4
T helper cells that initiate phagocytosis
Natural killer cells
responsible for recognizing and killing virus, tumor, and transplanted grafts
dendritic cells
capture and present antigens to t-cells
cytokins
messengers between cells
name the 5 main types of cytokines
Interleukins
Interferons
Tumor necrosis factor
Colony-stimulating factors
Erythropoietin
Inhibit viral replication, activate NK cells and macrophages, keep tumor cells at bay
alpha and beta interferons (a-IFN, b-IFN)
inhibits viral replication, activates NK, neutrophils, and macrophages. promotes B-cell differentiation.
gamma interferon (y-IFN)
responsible for weight loss in chronic inflammation and cancer, kills tumor cells, activates macrophages and granulocytes
Tumor necrosis factor (TNF)
stimulates proliferation and differentiation of neutrophils, enhances functional activity of PMN's
Granulocyte-colony stimulating factor (G-CSF)
Stimulates proliferation and differentiation of PMN's and monocytes
Granulocyte-macrophage colony stimulating factor (GM-CSF)
Promotes proliferation, differentiation, and activation of monocytes and macrophages
Macrophage-colony stimulating factor (M-CSF)
stimulates erythroid progenitor cells in bone marrow to produce RBC's
Erythropoietin
IgG: serum concentration. location. characteristics
76%
Plasma, interstitial fluid
only immunoglobin that can cross the placenta, responsible for secondary immune response
IgA: serum concentration. location. characteristics
15%
Body secretions
Lines mucous membranes and protects body surface
IgM: serum concentration. location. characteristics
8%
Plasma
Primary immune response, forms antibodies to ABO,
IgD: serum concentration. location. characteristics.
1%
plasma
present on lymphocyte surface, assists with B lymphocyte differentiation
IgE: serum concentration. location. characteristics.
0.002%
plasma, interstitial fluids
Causes symptoms of allergic reactions, fixes to mast and basophils, assists with defense to parasites
List the 4 types of hypersensitivity reactions
1. IgE mediated
2. Cytotoxic
3. Immune complex
4. Delayed hypersensitivity
What are type 1 hypersensitivity reactions
anaphylaxis
atopic
What are type 2 hypersensitivity reactions
Blood transfusions (blood clumping)
goodpasture
What are type 3 hypersensitivity reactions
autoimmune (RA, SLE)
What are type 4 hypersensitivity reactions
Contact dermatitis
microbial (TB)
what are some atopic reactions
allergic rhinitis (hay fever)
asthma
atopic dermatitis
uticaria
angiodema
_____________ is the recommended treatment for control of allergic symptoms when the allergen cannot be avoided and drug therapy is not effective.
Immunotherapy
What 2 types of latex allergies can occur?
type IV allergic contact dermatitis and type I allergic reactions.
an acquired disorder in which certain people exposed to various foods and chemicals in the environment have many symptoms related to multiple body systems.
Multiple chemical sensitivities (MCS
The ______ ______ _______ ______ system consists of a series of linked genes that occur together on the sixth chromosome in humans.
human leukocyte antigen (HLA)
Because of its importance in the study of tissue matching, the chromosomal region incorporating the ___ ____ is termed the major histocompatibility complex.
HLA genes
Immunodeficiency disorders are _______ if the immune cells are improperly developed or absent
primary
When are immunodeficiency disorders considered secondary
if the deficiency is caused by illnesses or treatment.
Rejection of organs occurs if the donor organ does not perfectly match the recipient's
HLA's
Organ transplantation rejection can be prevented by closely matching what
ABO, Rh, and HLAs between donor and recipient.
The three types of organ rejection can be classified as
hyperacute, acute, and chronic.
what is the goal of immunosuppressive therapy
to adequately suppress the immune response to prevent rejection of the transplanted organ while maintaining sufficient immunity to prevent overwhelming infection.
Commonly used immunosuppressive drugs include
corticosteroids, cyclosporine, tacrolimus (Prograf), and mycophenolate mofetil (CellCept).
What is important to asses for identifying at risk patients for allergic reactions
family history, especially atopic reactions
Cellular immunodeficiency is diagnosed if the lymphocyte count is below
1200u/L
The _________ count in a CBC with WBC diff is elevated with type I hypersensitivity reactions involving IgE immunoglobins
eosinophil
what are some allergies that cannot be treated with immunotherapy
food and eczema
what is the mechanism of action in immunotherapy
the binding of IgG to the allergen interferes with allergen binding to mast cell bound IgE', preventing mast cell degranulation
how long does immunotherapy last
1 to 2 years, but may be continued up to 5
early signs of a systemic allergic reaction include:
pruritis, sneezing, itching, urticaria, laryngeal edema, and hypotension
a local reaction should be described according to
the degree of redness and swelling at injection site. if the area is bigger than the size of a quarter, it should be reported
How should the nurse administer an allergen extract
away from the joint so a turniquet can be applied.
aspirate for blood so you know ur not in a vessel
observe PT for 20 min.
what are the two types of latex allergies
type IV allergic contact dermatitis
type I
what happens in a type IV allergy to latex
delayed reaction 6-48 hours
dryness, itching, fissuring, cracking of skin
followed by redness swelling and crusting 24-48 hours later
what happens in a type I allergy to latex
skin redness, urticaria, rhinitis, conjunctivitis, asthma, or full blown anaphylatic shock