Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Immunology PY2 > Lecture 31: Immunodeficiency > Flashcards

Lecture 31: Immunodeficiency Flashcards

1
Q

primary immunodeficiency is aka ___

A

inborn error of immunity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what causes primary immunodeficiency?

A

genetic defect that nagatively impacts immune function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

secondary immunodeficiency is aka ____

A

acquired immunodeficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what is secondary immunodeficiency?

A

a loss of immune function due to exposure to an external agent such as certain infectious agents or medical treatments

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

in primary immunodeficiency, depending on what factors, the oucomes can range from unnoticeable to fatal?

A

the nature of the mutation (homozygous/heterozygous, deletion/mutation/loss of fx)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

in primary immunodeficiency, depending on the affected component of the immune system, there will be increased ____ or ____

A

susceptibility to infection by pathogens OR sensitivity to autoimmune/hypersensitivities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

primary immunodeficiencies are categorized by the types of cell involved in the _____ stage at which the defect occurs

A

developmental

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

severe forms of primary immunodeficiency appear at what stage in life? Why do they occur?

A

early in life as a result of recurrent infections and associated health problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

reflexive testing for every newborn in nova scotia is screened for ___

A

SCID

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

how is the testing done for newborns to see if they have SCID?

A

testing by qPCR identifies if TCR and BCR have been rearranged (indicating normal T/B development)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what are 10 warning signs for primary immunodeficiency in children?

A
  1. 4/more ear infections in 1 year
  2. 2/more serious sinus infections in 1 year
  3. 2/more months of antibiotics w/ little effect
  4. failure to gain weight
  5. recurrent deep skin or organ abscesses
  6. 2/ more pneumonia infections in 1 year
  7. persistent thrush in mouth or fungal infection on skin
  8. need for IV antibiotics to clear infections
  9. 2/more deep-seated infections including septicemia
  10. family hx
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

lymphoid immunodeficiencies may involve what types of cells?

A

B cells, T cells, both B & T cells, sometimes NK cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

lymphoid immunodeficiencies mainly affect the ____ immune response

A

adaptive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

the B cell defects in lymphoid immunodeficiencies range from _____ to ____

A

a complete loss of B cells and immunoglobin to a selective loss of certain immunoglobulin classes such as IgA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

T cell defects in lymphoid immunodeficiencies range from ____ to ____

A

total absence of T cells to loss of particular functions, such as specific cytokine production or loss of costimulatory molecules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

in lymphoid immunodeficiencies, ____ immunity to T-dependent antigens is also affected

A

humoral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

in lymphoid immunodeficiencies, T cell dysfunction together with some impact on antigen function is called _____

A

combined immunodeficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

can the same dx be caused by more than one gene alteration?

A

yes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what is SCID?

A

severe combined immunodeficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what is BLS?

A

Bare-lymphocyte syndrome” MHC deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

what is the specific defect that leads to DiGeorge syndrome?

A

thymic aplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

DiGeorge syndrome causes what immune defect?

A

decreased T cell count

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Hyper-IgM syndrome is caused by defective _____ or ____

A

CD40 ligand ot CD40

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

what immune fx are impaired by Hyper-IgM syndrome?

A

elevated IgM due to loss of other isotypes, defective APC leading to reduced T cell responses to intracellular pathogens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

severe combined immunodeficiency (SCID) refers to a family of disorders that affects all leukocyte differentiation, or specifically impairs T, B and/or NK cells through one of what 3 ways?

A
  1. activation defects
  2. defective VDJ rearrangement
  3. defective cytokine signalling
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

t/f SCID can result from an array of mutations and therefore exists as dx subtypes

A

t

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

what are 5 subtypes of SCD?

A
  1. reticular dysgenesis
  2. adenosine deaminase (ADA) deficiency
  3. RAG deficiency
  4. JAK-3 kinase or common y-cahin deficiency
  5. CD3 zeta chain deficiency
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what is the the defect in the reticular dysgenesis subtype of SCID?

A

mitochondrial adenylate kinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

what is the pathology of the reticular dysgenesis subtype of SCID?

A

a defect in mitchondrial adenylate kinase prevents hematapoietic stem cell differentiation into myeloid and lymphoid progenitor cells, leading to total lack of leaukocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

_____ is a rare form of SCID that is lethal if the patient does not get aggressive treatment using bone marrow transplantation

A

reticular dysgenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

what is the treatment of reticular dysgenesis?

A

bone marrow transplantation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what is the pathology of adenosine deaminase deficiency?

A

results in the accumulation of adenosine (whoch is normally converted to inosine by ADA), which is toxic to T, B and NK cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

what is the pathology of RAG deficiency?

A

a defect in the genes coding for the recombinase enzymes (RAG-1 and RAG-2) required for TCR and immunoglobulin gene rearrangement (results in failure of T and B cell precursors to differentiate)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

what is the pathology of JAK-3 kinase or common y-chain deficiency?

A

impeded signalling through cytokine receptors (IL-2, IL-15_ that are critical for T cell and NK cell development and action

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

what is the pathology of CD3 zeta chain deficiency?

A

disrupts TCR signalling which impacts T cell development leading to low # or no mature T cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what are the sx characteristics of SCID?

A

severe and recurrent infections (bacterial, viral, fungal) that usually lead to death early in life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

what is the effect of live or attenuated vaccines on people with SCID?

A

can be fatal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

how can the life of SCID patients be prolonged?

A

confinement in a sterile environment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

what is the current treatment for SCID?

A

bone marrow transplantation from HLA-matched donor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

if the bone marrow transplant works, will a patient be cured of SCID?

A

yes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

what is a potential alternative treatment to bone marrow transplantation to treat some forms of SCID (ex; ADA deficiency), but is only in experimental stages?

A

gene therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

what is Bare-lymphocyte syndrome?

A

defective expression of MHC 1 or 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

In what way does Bare-lymphocyte syndrome resemble SCID?

A

T and B cell activation is sevrely impaired in both

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

an MHC1 deficiency results from a defect in genes coding for _____ or ____ resulting in a deficiency in __Tcells and depressed cellular immunity

A

B2-microglobulin or TAP; CD8+ T cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

MHC 2 deficiency results from a failure to transcribe genes that encode ____ molecules, resulting in impaired selection of ____T cells in the thymus and limited _____cell responses that impact cellular and humoral immunity

A

MHC2; CD4+ T cells; helper T cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

T cell deficiencies can be the result of developmental defects in the ____ or mutation of proteins involved in the _____

A

thymus; TCR signalling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

DiGeorge syndrome is aka ___

A

congenital thymic aplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

in DiGeorge syndrome, children are born without a ___ or ____

A

thymus or parathyroids (some thymic tissue typically present)

49
Q

in DiGeorge syndrome ____immunity is impaired and B cells cannot _____

A

cell-mediated; B cells cant make specific antibody in response to infection or vaccination

50
Q

what is the effect of viral, fungal or protozoal infections on patients with DiGeorge syndrome?

A

often fatal

51
Q

what is a potential treatment for DiGeorge syndrome?

A

a fetal thymus transplant can provide hormones and allow T cell maturation

52
Q

X-linked Hyper-IgM syndrome is an inherited deficiency in ____ on T cells or ____ on B cells

A

CD40L on T cells and CD40 on B cells

53
Q

what is the role of APC in hyper-IgM syndrome?

A

prevents B cell responses to T-dependent antigens

54
Q

what causes the high IgM in Hyper-IgM syndrome?

A

since B cells cant respond to T cells, but can respond to T-independent antigens, this causes the disproportionate production of IgM

55
Q

how are DC impacted by hyper-IgM syndrome?

A

DC maturation, IL-12 secretion and licensing for CD8+ T cell activation is impaired bc DC also depend on the CD40/CD40L signalling of helper T cells

56
Q

X-linked agammaglobulinemia occurs very rarely in which sex?

A

males (bc it is an X-linked disorder)

57
Q

X-linked agammaglobulinemia is caused by a defect in _____

A

Bruton’s tyrosine kinase

58
Q

what is the fx of bruton’s tyrosine kinase?

A

required for the pro-B cell to pre-B cell transition

59
Q

people with X-linked agammaglobulinemia lack what types of cells?

A

mature B cells and circulatinf antibody (bc maturation is halted)

60
Q

what type of infections are common in X-linked agammaglobulinemia?

A

recurrent bacterial infections (especially by encapsulated bacteria)

61
Q

how can X-linked agammaglobulinemia be treated?

A

with antibiotics & injections of purified pooled human IgG

62
Q

when treated with IgG for X-linked agammaglobulinemia, what types of infections still happen? why?

A

sinopulmonary infections due to continued lack of secretory IgA

63
Q

what are selective immunoglobulin deficiencies?

A

result when one antibody class or subclass is missing

64
Q

what is the most common type of selective immunoglobulin deficiency?

A

IgA

65
Q

IgA deficiency is characterized by ____

A

a failure of IgA-committed B cells to differentiate into plasma cells

66
Q

what are the characteristic sx of a patient with IgA deficiency?

A

frequent bacterial and viral sinopulmonary infections and increased allergies due to excessive IgE production

67
Q

what is the treatment for IgA deficiencies?

A

braod-spectrum antibiotics

68
Q

chronic granulomatous dx and leukocyte adhesion deficiencies are both examples of defects in ___ cell fx

A

innate immune cell

69
Q

what is the defect that causes chronic granuloatous?

A

mutations in phagosome NADPH oxidase subunits

70
Q

what immune fx are impaired by chronic granulomatous?

A

no ROS or RNS for killing of phagocytosed pathogens

71
Q

what is the defect that causes leukocyte adhesion deficiencies?

A

defective integrins

72
Q

what immune fx are impaired by leukocyte adhesion deficiencies?

A

leokocyte extravasation and chemotaxis

73
Q

t/f defects in TCR signalling can be fatal if untreated

A

t

74
Q

myeloid cell immunodeficiencies affect ____ immune fx

A

innate

75
Q

what is the defect that causes chronic granulomatous dx?

A

defect in the oxidative pathway that phagocytes use to make reactive O2 and n2

76
Q

what is the impact of chronic granulomatous dx on phagocytes?

A

phagocytes are unable to kill many types of phagocytosed bacteria

77
Q

chronic granulomatous dx results in excessive ____ responses

A

inflammatory

78
Q

what is the effect of chronic granulomatous on antigen processing and presentation?

A

impaired

79
Q

people with chronic granulomatous have higher incidence of what types of infections?

A

bacterial and fungal

80
Q

chronic granulomatous is a ____ type immunodeficiency

A

myeloid

81
Q

leukocyte adhesion deficiency (LAD) is a ____ type immunodeficiency

A

myeloid

82
Q

how does lymphoid adhesion deficiency (LAD) occur?

A

failure to express the B subunit (CD18) of the adhesion molecules LFA-1, MAC-1 (CR3) and gp150,90(CR4)

83
Q

what is the impact of LAD on extravasation of neutrophils, monocytes, and lymphocytes?

A

impaired

84
Q

what is the effect of LAD on CTL and NK cells?

A

impairs their ability to adhere to target cells

85
Q

what is the impact of LAB on T helper cells and B cells?

A

failure for these cells to form conjugates

86
Q

what are some of the common sx of a patient with leukocyte adhesion deficiency?

A

frequent bacterial infections and impaired wound healing which may lead to premature death

87
Q

complement deficiencies are relatively ____ (common/rare)

A

common

88
Q

in complement deficiencies, the severity is linked to the_____

A

specific component (s) involved

89
Q

deficiencies in any of the early components of the classical complement pathway (such as ___, ___, ___, __ & ___) prevents the generation of ____

A

Clq, Clr, C1s, C2 and C4 ; C3 convertase

90
Q

when deficiencies happen early in the classical complement pathway and C3b (opsonin) is not made, what is the impact?

A

leads to bacterial infections and immune complex dx due to a failure to clear immune complexes by phagocytosis

91
Q

what is the severity level of C3 deficiencies?

A

severe

92
Q

C3 deficiencies result in frequent ____ type infections and ____ dx

A

bacterial; immune complex

93
Q

why does a C3 deficiency result in frequent bacterial infections?

A

no opsonization by C3b and failure to form membrane attack complex

94
Q

why can C3 deficiencies lead to immune complex dx?

A

immune complex clearance by phagocytes is impaired

95
Q

deficiencies in which complement proteins cause few health problems except for an increased rate of infections by Neisseria species?

A

C5-C9 deficiencies

96
Q

why are Neisseria species infections able to infect better when there is a C5-C-9 deficiency?

A

the Neisseria species are typically susceptible to lysis by the membrane attack complex

97
Q

what is an example of an infection that causes secondary/acquired immunodeficiency?

A

HIV

98
Q

what are 4 causes of secondary/acquired immunodeficiency?

A
  1. infections
  2. Agent-Induced immunotherapy
  3. Age
  4. Malnutrition
99
Q

what are 3 examples of agent-induced immunotherapy?

A
  1. chemotherapy
  2. radiation
  3. immunosuppression (i.e. corticosteroids)
100
Q

what age-related populations are more at risk for age-related secondary immunodeficiency?

A

very young and very old

101
Q

what are 2 forms of malnutrition that can lead to secondary / acquired immunodeficiencies?

A
  1. prolonged aproteinemia

2. macronutrient insufficiency (Vitamin D, C, zinc …. are these MACRO nutrients or micronutrients??)

102
Q

what is AIDS?

A

acquired immunodeficiency syndrome

103
Q

AIDS results from progressive loss of immune responsiveness due to infection & loss of ____ cells by _____ retrovirus

A

CD4+ T helper cells; human immundeficiency virus-1 (HIV-1)

104
Q

AIDS is defined as having a T cell cout lower than ___T cells/u blood OR presence of ____

A

200; AIDS defining illness

105
Q

t/f macrophages and DC are affected by HIV-1

A

yes

106
Q

how can AIDS result in death?

A

due to opportunistic pulmonary inections, rare cancers and central nervous system complications

107
Q

how can HIV-1 be transmitted?

A

sex, blood, mother to infant (blood transfer during birth and or milk during breastfeeding)

108
Q

does the same strain of HIV-1 infect naive T cells and Tcm vs macrophages, DC and Tem cells?

A

no, its different strains

109
Q

what act as co-receptors for HIV-1?

A

CD4 and chemokine receptors (CCR5 and CXCR4)

110
Q

initial HIV infection is by ____variants and ___ variants arise later

A

R5; X4

111
Q

HIV-1 infected macrophages and DC act as ____

A

viral reservoirs

112
Q

HIV-1 infected T helper cells eventually die as a result of _____

A

viral replication

113
Q

____ therapy inhibits HIV replication and dx progression

A

antiretrovial

114
Q

2 HIV patients were given cell transpants with ___ and now appear to be clear of HIV

A

CCR5 delta delta (a CCR5 mutant)

115
Q

an example of a chemotherapeutic drug that can cause agent-induced and other secondary immunosuppressive immunodeficiencies

A

cisplatin

116
Q

chemotherapeutic cells inadvertently target bone marrow stem cells, T & B cells, resulting in ____ and ____

A

leukopenia (esp. neutropenia) and loss of immune fx

117
Q

____ is an immunosuppressive drug used to prevent oragn graft rejection, but also interferes with normal T cell responses

A

cyclosporin A

118
Q

what is the effect on the immune system & risks of taking cyclosporin A?

A

T cells are present, but non-responsive, resulting in overwhelming infections and increased risk of cartain cancers, exp lymphomas

Immunology PY2 (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions