Primary Immune Deficiency Flashcards
definition of primary immune deficiency
- genetic mutation that may occur at any phase of the immune response
primary immune deficiencies create undue susceptibility to
- infection
- autoimmunity
- malignancy
inheritance of primary immune deficiencies
- AR
- AD
- X-linked
most primary immune deficiencies are present in which stage of life?
- childhood
importance of maternally transmitted IgG and primary immune deficiencies
- can mask immunodeficiency up until about 6 months of age
majority of immune deficiencies are due to which cell?
- B cells or humoral immunity
categories of immunodeficiency
- humoral/antibody defects
- cellular (mixed)
- innate immunity
what kind of infections do you get with humoral/ antibody defects?
- pyogenic infections with encapsulated bacteria
what diseases do you get with humoral/antibody defects?
- recurrent otitis media
- sinusitis
- pneumonia
viral infection and humoral/antibody defects
- frequent viral infections
diarrhea and humoral/antibody defects
- chronic diarrhea
too frequent number of infections/antibiotics
- > 4 courses of antibiotics per year in children
- > 2 courses of antibiotics per year in adults
- > 4 new ear infections in one year after age 4
- pneumonia twice over any time
- > 3 episodes of bacterial sinusitis in one year
Agamaglobulinemias caused by
- defects in B cell development
Agamaglobulinemias and germinal center
- germinal center formation is defective
Agamaglobulinemias and lymphoid tissues
- underdevelopment of lymphoid tissues
- lymph nodes
- spleen
- TONSILS AND ADENOIDS
- Peyer’s patches
good physical sign for Agamaglobulinemias
- no tonsils or adenoids
XLA accounts for what percentage of all Agamaglobulinemias
- 85%
another name for XLA
- bruton’s Agamaglobulinemias
XLA/Bruton’s caused by
- failure of B cell maturation
XLA/Bruton’s or Bruton’s defect
- B cell tyrosine kinase
populations that XLA/Bruton’s affects
- boys
- lyonized females
role of B cell tyrosine kinase
- required for transducing signals from pre-B cell receptor
- stimulates B cell maturation
IgG in B XLA
- below 100 mg/dl
B cells in XLA
<2% of lymphocytes
T cells in XLA
- normal cell number and function
Cause of Hyper IgM syndrome
- defects in B cell isotype switching
number of B cells in hyper IgM syndrome
- normal numbers
levels of antibodies in hyper IgM syndrome
- elevated IgM levels
- low IgG, IgE, and IgA
frequency of IgA deficiency
- most common primary immunodeficiency
IgA levels in IgA deficiency
- <5-7mg/dl