Primary Immunodeficiency Flashcards
what is primary immunodeficiency?
PI is an immune system function properly or has parts of the immune system missing
what abnormality may patients suffer from in primary immunodeficiency?
weak innate immune system and different stages of lymphocyte development
how are patients diagnosed (non-clinical test)?
usually due to a history of repeated infections.
how are patients diagnostically diagnosed for primary immunodeficecies?
serum immunoglobulin (Ig levels)
flow cytometry of immune system
assessment of neurophil function
how is T- cell deficiency diagnosed ?
reduced numbers of peripheral blood t cells
low proliferative response of blood lymphocytes to polyclonal T cell activators
what are T-cell excision circles used for?
they are used to diagnose severe combined immunodeficiency.
What are the two important components of the innate system?
phagocytes and complement protiens
what does defects in the signalling pathway cause?
recurrent pyogenic infections and severe viral infections.
what is granulomatous diseases ?
granulomatous is caused by a mutation in the components of phagocyte oxidase enzyme complex. (2/3 are x-linked recessive inherited. 1/3 are autosomal recessive)
what are the most common causes of infections for patients of CDG?
Intracellular fungi and bacteria
Staphylococcus, usually from early childhood
Invasive infection with Aspergillus is the leading cause of death.
what type of infections are bad for CDG sufferers?
catalases - especially susceptible to catalase positive bacteria
what is leukocyte adhesion deficiencies?
a group of autosomal recessive disorders caused by defects in leukocyte and endothelial adhesion molecules.
what does LAD effect?
Failure of leukocyte, particularly neutrophil, recruitment to sites of infection
Resulting severe recurrent infections starting early in life, and an inability to make pus
Different types of leukocyte adhesion deficiencies are caused by mutations in different genes.
what do children with LAD-2 suffer from that those with LAD-1 don’t?
severe mental and growth retardation.
