learning outcomes Flashcards

1
Q

Define primary immune deficiency

A
  • disorders in which part of the body’s immune system is missing or does not function normally
  • predisposes to infections, cancers, autoimmunity
  • most primary immunodeficiencies are genetic disorders
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2
Q

Define secondary immune deficiency

A

the cause of the immune deficiency is secondary in nature (i.e. caused by other disease, drug treatment, or environmental exposure to toxins

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3
Q

explain the classification of primary immune deficiency disorders

A
  • mutations: severe combined immunodeficiency (SCID)
  • polygenic: common variable immunodeficiency (CVID), IgA deficiency, specific antibody deficiency
  • autoimmunity: autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED)
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4
Q

Give examples of primary disorders of T cell, B cell, phagocyte and complement function

A

defects in T cells: infection with intracellular organisms (protozoa, herpes. candida, and mycobacteria)

phagocytes: infections with staphylococci, gram-negative bacteria, and fungi
complement: meningitis

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5
Q

Understand the causes of primary immunodeficiency

A

mutations: permanent alteration in the DNA sequence that makes up
a gene

polymorphisms: variation at a single base pair
polygenic: disorders caused by the combined action of more than one gene

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6
Q

Illustrate the complications of immune deficiency disorders

A

mutations: SCID
- die in the first few months of life unless treatment is given
- history of early deaths in maternal uncles

polymorphism

  • human leukocyte antigen (HLA) alleles can affect the outcome of infections
  • mannan-binding lectin (MBL) (collagen-like protein that binds sugars in bacterial cell walls) activates the classic complement pathway

polygenic:
- CVID: low levels of total IgG. Levels of IgA and IgM and numbers of B and T cells are variable; causes recurrent respiratory tract infections
- specific antibody deficiency: develop recurrent infections with pneumococcus or Haemophilus spp. despite normal total IgG.

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7
Q

list the clinical features of primary immunodeficiency

A

unusual or recurrent infection

diarrhoea, unusual rashes

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8
Q

understand the principles of the treatment of primary immunodeficiency

A
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