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Immunology > Immunodeficiency disorders > Flashcards

Immunodeficiency disorders Flashcards

1
Q

What results in a primary immunodeficiency?

A

genetic or developmental defect in the immune system

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2
Q

What is a secondary/acquired immunodeficiency?

A

loss of immune function due to exposure to an external agent

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3
Q

primary immunodeficiencies affect either __ or__ immune functions

A

adaptive or innate

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4
Q

What is reticular dysgenesis?

A

occurs when stem cells fail to differentiate = total lack of leukocytes

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5
Q

What cells can lymphoid immunodeficiencies affect?

A

T, B, NK cells

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6
Q

What is the range of effects of a B cell specific immunodeficiency?

A

range from a complete absence of B cells, plasma cells, and immunoglobulin to a selective loss of certain immunoglobulin classes

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7
Q

What do serious B cell defects usually result in?

A

frequent bacterial infections

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8
Q

T cell defects result in frequent…

A

viral and fungal infections

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9
Q

What is SCID? what does it include?

A

severe combined immunodeficiency disorder

refers to a family of disorders affecting both B and T cells or T cells

  • Bare-lymphocyte syndrome
  • DiGeorge syndrome
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10
Q

What 2 SCID defects affect both T, B and NK cells?

A
  1. Adenosine deaminase deficiency

2. X linked IL-2Rγ chain deficiency

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11
Q

How does ADA deficiency affect lymphoid cells?

A

results in the accumulation of adenosine which is toxic for all lymphocytes

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12
Q

How does a defect in the IL-2Rγ chain cause SCID?

A

impedes signalling through the IL-2 receptors (and other cytokines) which are critical for T, B, and NK cell activation

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13
Q

What 2 defects affect both B and T cells?

A
  1. RAG1 or RAG2

2. Artemis deficiency

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14
Q

What is the result of a RAG1 or RAG2 deficiency ?

A

failure of the T and B cell precursors to differentiate because there is no recombinase enzyme

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15
Q

What is the result of an Artemis deficiency?

A

Failure to cleave the hairpin loop during variable region recombination

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16
Q

What defect affects T cells only?

A
  1. CD3 zeta (ζ) chain deficiency
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17
Q

What is the result of the zeta (ζ) chain deficiency?

A

T cell signalling is impeded as well as humoral responses to T-dependent antigens

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18
Q

What defect results in bare lymphocyte syndrome?

A 
defective expression of class II MHC 
- fail to transcribe genes that encode class II MHC
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19
Q

What lymphocytes are impacted by bare lymphocyte syndrome?

A

B, T, cells

- APCs are mainly the ones that can’t express the MHC

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20
Q

what are the symptoms of SCID?

A

Severe and recurrent infections
- bacterial, viral, fungal
Tend to be fatal

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21
Q

What treatments are available for SCID?

A
  1. Bone marrow transplant form HLA matched donor

2. Gene therapy (experimental)

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22
Q

T cell immunodeficiencies mainly result in?

A

susceptibility to viral, fungal, and protozoal infections

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23
Q

What is DiGeorge syndrome?

A

Children born with no (or almost no) thymus or parathyroids

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24
Q

What is the result of having no thymus ?

A

Few functional T cells are preset

- no cell mediated immunity

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25
Q

Are there B cells present in DiGeoge syndrome?

A

Yes but they can’t make specific antibody without Th cells

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26
Q

What’s a potential treatment for DiGeorge syndrome?

A

transplantation of a fetal thymus

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27
Q

How common is X-linked agammaglobulinemia?

A

occurs in 1 in 103 to 106 males

- relatively common

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28
Q

What is the cause of X-linked agammaglobulinemia?

A

Defect in Brunton’s tyrosine kinase disrupts B cell signalling

As a result Pre-B cells in the BM fail to differentiate into mature ones
- don’t undergo light chain rearrangement

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29
Q

What do individuals have in X-linked agammaglobulinemia?

A

little to no circulating antibody

30
Q

How can you treat X-linked agammaglobulinemia?

A

injections of pooled human IgG

31
Q

What infections are X-linked agammaglobulinemia patients susceptible to? why?

A

sinopulmonary infections due to a continued lack of secretory IgA

32
Q

What causes X-linked hyper-IgM syndrome?

A

Defect in the gene coding for the CD40 ligand

33
Q

What kind of antigens do people with X-linked hyper-IgM syndrome fail to respond to? Why?

A

T dependent antigens because the CD40 on the B cell needs to interact with CD40L on the T cell in order to produce specific antibody

34
Q

What is the response to T-independent antigens like in X-linked hyper-IgM syndrome?

A

normal

35
Q

Why are there high levels of IgM in X-linked hyper-IgM syndrome?

A

Because t-independent antigen stimulation is the only kind occurring and there is no class switching

36
Q

What are Selective immunoglobulin deficiencies?

A

When one antibody class or subclass is missing

37
Q

What is the most common selective immunoglobulin deficiency?

A

IgA deficiency

38
Q

What causes an IgA deficiency?

A

Failure of IgA committed B cells to differentiate into plasma cells

39
Q

What do patients with IgA deficiency often suffer from?

A

frequent bacterial and vial sinopulmonary infections as well as increasde allergies due to excessive IgE production

40
Q

What is the treatment for IgA deficiency?

A

Broad spectrum antibiotics

41
Q

What do myeloid immunodeficiencies affect?

A

innate immune function, particularly phagocytosis

42
Q

What are the 3 myeloid cell immunodeficiencies ?

A
  1. Congenital neutropenia
  2. Chronic granulomatous disease
  3. Leukocyte adhesion deficiency (LAD)
43
Q

What causes congenital neutropenia?

A

Decreased production of granulocyte-colony stimulating factor (G-CSF)

44
Q

What is the result of decrease in granulocyte-colony stimulating factor (G-CSF)?

A

Myeloid stem cells fail to differentiate into neutrophils

45
Q

What is the result of congenital neutropenia?

A

frequent bacterial infections

46
Q

What causes chronic granulomatous disease?

A

defect in the oxidative pathway used by phagocytes to generate hydrogen peroxide?

47
Q

What is the result of chronic granulomatous disease? What is there an excess of? what are people susceptible to?

A

Phagocytes are unable to kill many types of bacteria

Excessige inflammatory responses

susceptibility to bacterial and fungal infections

48
Q

What is also impaired with chronic granulomatous disease?

A

Antigen processing and presentation

- and T cell activation indirectly

49
Q

What causes leukocyte adhesion deficiency? (LAD)

A

failure to express the ß subunit of the adhesion molecules LFA-1, MAC-1 (CR3), and gp150,90 (CR4)

50
Q

What are the three pathologies (in terms of cells) that result from LAD?

A
  1. impaired extravasation of neutrophils, monocytes, and lymphocytes
  2. impaired ability of CTL and NK cells to adhere to target cells
  3. impaired conjugate formation between Th and B cells
51
Q

What are 2 major problems for people with LAD?

A

Frequent bacterial infections and impaired wound healing

52
Q

What happens if there are defects in any of the early components of the classical complement pathway?

A

prevents generation of classical c3 convertase

53
Q

What else is not produced if there are defects in early classical complement pathway components? what is the result

A

C3b opsonin

frequent bacterial infections and immune complex disease

54
Q

What are the most severe type of complement deficiencies?

A

C3 deficiencies

55
Q

What do C3 deficiencies cause? (3 things)

A

frequent bacterial infections, failure to form MAC, and immune complex disease

56
Q

What is the result of a C5-C9 deficiency?

A

Few health problems except for an increase in infection by Neisseria species

57
Q

Why is immune complex disease rare with C5-C9 deficiencies?

A

likely because enough C3b is produced for immune complex clearance

58
Q

What is the result in a defect in Factor D or properdin?

A

Susceptibility to infection by Neisseria species

59
Q

What are Factor D and properdin essential for?

A

proper functioning of the alternative complement pathway

60
Q

What is the cause of Acquired Immunodeficiency Syndrome (AIDS)? what is the result?

A

HIV-1 virus cuases progressive destruction of CD4+ Th cells

results in progressive loss of immune resposiveness

61
Q

What other 2 cell types are also infected by HIV-1

A

Macrophages and DCs

62
Q

Why does AIDS result in death?

A

opportunistic pulmonary infections, rare cancers, and central nervous system complications

63
Q

How is HIV1 spread?

A

Sexual contact, infected blood, and from mother to infant during birth or breastfeeding

64
Q

What co-receptor is the one used by HIV-1 to infect T cells?

A

CXCR4

65
Q

What co-receptor is the one used by HIV-1 to infect macrophages?

A

CCR5

66
Q

What is another means of causing a secondary immunodeficiency?

A

by immunosuppressive drugs

67
Q

What is the effect of anticancer drugs like cisplatin? How do they impact the immune response?

A

target rapidly proliferating cancer cells

also toxic to proliferating bone marrow stem cells, T cells and B cells

68
Q

What are 2 immunosuppressive drugs that are used to prevent organ graft rejection?

A

cyclosporin A and rapamycin

69
Q

What do graft rejection drugs do to the immune response?

A

interfere with normal T cell responses

- makes them unresponsive

70
Q

What are 2 side effects from anti graft rejection drugs?

A

infections and certain cancers

Immunology (19 decks)

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