c39 lec 10 Flashcards
immunodeficiencies that are inherited through genetics
primary immunodeficiencies
arise from absent or defective component in either innate or adaptive immunity
immunodeficiencies
lead to enhanced susceptibility to infection or autoimmunity from childhood
primary immunodeficiencies
primary immunodeficiency can come in what kinds of mutations
dominant
recessive
X-linked
what are the 4 kinds of immunodeficiencies that affect immune cell development
- combined immunodeficiencies
- phagocyte deficiencies
- humoral deficiencies
- T cell tolerance deficiencies
most severe primary immunodeficiency
combined immunodeficiencies (CIDs)
Arise from disruptions to T cell function, significantly impairment to T cells or loss of T cells
Combined immunodeficiencies (CID)
most extreme form of CIDs
Severe combined immunodeficiencies (SCID)
what are the 5 main categories of SCIDs that result in loss of T cells or lack of T cell function?
Defect in mitochondrial adenylate kinase
Defect in purine metabolism
Defective V(D)J rearrangement *
Defective cytokine signalling*
- such as IL2, remember T cells need IL2 for T cell activation
Disrupted pre-TCR or TCR signalling *
humoral deficiency causing extremely low immunoglobulin levels and almost no naive mature B cells
X-linked Agammaglobulinemia (XLA)
is X-linked Agammaglobulinemia (XLA) in males and females?
no only males
because they only have one X chromosome
CID that results in high IgM levels
Hyper-IgM syndrome
method to detect and quantify the amount of antibody or antigen present based on amount of colour
ELISA enzyme -linked immunosorbent assay
- amount of colour dependent on how much substrate is cleaved by enzyme
