What is an autosomal recessive disorder?
mutations of to homozygous gene pairs on a chromosome. A person who inherits one copy of the recessive allele does not develop the disease because the normal allele predominates. But they do become a carrier.
What is an autosomal dominant disorder?
Mutations of a single heterozygous gene pair on a chromosome. the dominant allele prevails over the normal allele. these disorders have variable expression meaning symptoms vary from person to person. When the mutation skips a generation it is termed incomplete penetrance.
What is an x-linked recessive disorder?
Mutation on the X chromosome. usually only men are affected by this type of disorder because women have an additional X chromosome to compensate. Women who carry the mutated gene can transmit it to their offspring. Women can have x-linked recessive disorders if an affected male mates with a carrier female.
What are Multifactorial Inherited Conditions?
Caused by a combination of genetic and environmental factors. Runs in families but do not show the same characteristics as single-gene mutation conditions
ions. Some conditions include diabetes m. obesity, hypertension, cancer, coronary artery disease..
What are some types of genetic tests?
carrier screening, preimplantation genetic diagnosis, prenatal diagnostic testing, newborn screening, presymptomatic testing for predicting adult onset carriers, Presymptomatic testing for the risk of developing a disorder, Conformational diagnosis of a symptomatic individual, identity testing
What is GINA and why does it exist?
The genetic Information Nondiscrimination Act prohibits discrimination in healthcare coverage and employment based on genetic information.
What special ability to stem cells have?
they can remain a stem cell or differentiate into specialized cells.
What are the 2 types of stem cells and how are they different?
Embryonic stem cells have the ability to become anyone of the hundreds of types of cells in the human body. Adult stem cells are undifferentiated cells found in small numbers in many organs. Adult stem cells many differentiate into the tissues in which they are found.
What 3 functions does the immune response serve?
Defense, Homeostasis, Surveillance
What type of immunity is not antigen specific?
What type of immunity results from the invasion of the body by foreign substances and the subsequent development of antibodies and sensitized lymphocytes. Takes longer to develop but is long lasting.
Active Acquired Immunity
What type of immunity implies that the host receives antibodies to an antigen rather than synthesizing them.
Passive acquired immunity
What is an example of artificial acquired active immunity?
Immunization with live or killed vaccines
What is an example of artificial passive acquired immunity?
Injection of human gamma globulin
What is the only immunoglobulin that crosses the placenta to provide the newborn with acquired immunity for 3 months and is responsible for secondary immune response.
What immunoglobulin causes symptoms of allergic reactions...
What type of immune response is initiated through specific antigen recognition by T cells.
What are some types of IgE mediated reactions?
Anaphylactic reactions, wheal and flare reactions, atopic reactions
What is urticaria?
What are the characteristics of atopic dermatitis?
chronic, inherited skin disorder characterized by exacerbation and remissions. Usually patients have elevated IgE levels but do not exhibit localized wheal and flare type reactions.
What is angioedema?
a localized cutaneous lesion similar to urticaria but involving deeper layers of the skin and sub mucosa. Principal areas are eyelids, lips, tongue, larynx, hands, feet, GI tract, genitalia
What food should be avoided while taking cyclosporine?
What are some examples of a Type II hypersensitivity reaction.
Hemolytic Transfusion Reactions- recipient receives ABO incompatible blood from a donor. Agglutination (clumping) occurs.
Goodpasture Syndrome- involves lungs and kidneys, antibody mediated autoimmune reaction occurs involving the glomerular and aveolar basement membranes of lungs or kidneys
What are common locations for type III Immune Complex reactions?
Kidneys, skin, joints, blood vessels, lungs.
What type of reaction is usually associated with autoimmune disorders such as systemic lupus erythematosus, acute glomerulonephritis and rheumatoid arthritis
Type III Immune-Complex Reactions
What is another term for cell-mediated immune response?
Type IV Delayed hypersensitivity reactions- the same as cell mediated immunity but with tissue damage.
What are some examples of Delayed Hypersensitivity Reactions
Contact Dermatitis, Microbial Hypersensitivity Reactions
What are the 5 aspects of therapeutic management that must be handled with speed when dealing with anaphylaxis?
1. recognition of S&S
2. Maintenance of patient airway
3. prevention of spread of the allergen by using a tourniquet
4. Administration of drugs
5. treatment for shock
What is autoimmunity?
an immune response against self. the immune system no longer differentiates self from nonself. Unresponsive immune cells are activated. The specific disease manifested depends on the self-antigen involved.
What are the 2 principal factors in autoimmunity?
1. The inheritance of susceptibility genes which may contribute to the failure of self tolerance
2. Initiation of autoreactivity by triggers such as infection, which may activate self-reactive lymphocytes.
What is apheresis?
A procedure to separate components of the blood followed by the removal of one or more of these components.
What is plasmapheresis?
The removal of plasma containing components causing or thought to cause disease.
How is autoimmunity different from immunodeficiency?
Autoimmunity is when a persons immune system responds against self where as immunodeficiency is when the immune system does not adequately protect itself.
What are some common tissue transplants?
corneas, skin, bone marrow, heart valves, bone, connective tissue
What type of organ has very little chance of rejection?
An avascular organ such as the cornea. Because they are avascular no antibodies reach the cornea to reject it.
What organs are at high risk for graft rejection and thus HLA typing is very important?
The kidneys and bone marrow
Name and describe the 3 types of transplant rejection?
Hyperacute rejection- occurs minutes to hours after transplantation because the blood vessels are rapidly destroyed.
Acute rejection- most common in first 6 months and mediated by recipient lymphocytes which have been activated against the donor organ. Reversible and one rejection episode is not uncommon
Chronic Rejection- over months or years and is irreversible. For unknown reasons or after several episodes of acute rejection.
What food should people on cyclosporine not consume?