immunodeficiency Flashcards
(10 cards)
what are inborn (primary)- what mutation does this occur in
and acquired immunodefiency (secondary). when does it occur
inborn= present from birth. can be inherited or mutation (recessive or dominance).
lead to minor increased risk of infection or inability to control any infection
acquired= can occur any time after birth.
due to malnutrition, infection, age, use of certain drugs
inborn
-diagnosis
-disease in cells
1) x linked SCID.- treatment, what gender does it effect more. retrovirus gene therapy used.
2) chronic granulomatous disease
3) hyper IgM syndrome
-recurrent infection in children. due to muation in one or multiple genes
1) defect in T and B cell combined. treatment is bone marrow transplant. effects males more due to being x-linked. retrovirus gene therapy used for ADA- SCID.
2) no phagocytosis happens, defect in neutrophil function. therefore no elimination of bacteria so granulomas occur, defect in NAHDH enzyme
3) defect in T cell lead to poor antibody response
examples of inate immunodeficiency
1) T and B cell combined = x linked severe combined immunodefiency
-who does it occur in
-what gene does it defect
-what happened to david vetter
-how to prevent EBV
-what is ADA and treatment
-occurs more in males as x linked
-defect in gene IL2 receptor gamma
-received bone marrow transplant from his sister, but led to him getting EBV. he died.
-to prevent EBV screen bone marrow
-ADA is a mutation that harms lymphocytes and immune systum, the treatment is bone marrow transplant
2) T cell (hyper-igM syndrome)
-what mutation in T cell molecule gene does the defect occur in
-the response of the mutation
-CD40L gene
-leads to poor antibody response
3) phagocytes (chronic granulomatous disease)
-what enzyme is defected
-impacts of this mutation
-impacts on phagocytes
-NADPH defects
-means cells have no superoxide burst, lack of neutrophils
-therefore phagocytes cannot kill pathogens they have phagocytosed.
why live attenutaed vaccines can be dangerous for people with immunodefiencies
e.g measules, polio and rotavirus
in people with primary immunodefeincies vaccination can lead to severe diseases
examples of acquired immunodefiency
1) HIV infection
-what is it?
-treatment
depletion of CD4 helper T cells
-treatment with antiretrovial therapty to prevent development of aids
2) malnutrition
-what is it
-why they get it
-complex relationship that leads to mortaility
-inhibits lymphocyte maturation and function
-they make poor responses to vaccines
-loads of factors can lead to malnutrition
3) removal of immune organs thymus and spleem
thymus- reduced T cell
spleen- decreased phagocyte of microbes
4) autoimmune immunodefiencies
-what virus does it relate to severe outcomes in
-what antibodies does some people have against immune molecules e.g. cytokines
-treatment
-covid-19
-type 1 and 2 interferons, IL-17
-people with autoantibodies
-drugs that deplete B cells or plasma cells
