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MI and Genomics > MI 06a: Immunodeficiencies > Flashcards

MI 06a: Immunodeficiencies Flashcards

1
Q

Primary (acquired/congenital) immunodeficiencies differ from (acquired/congenital) immunodeficiencies in that they’re caused by (X).

A

Congenital;
Acquired
X = mutations in genes

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2
Q

Congenital immunodeficiencies typically exhibit which mode of inheritance?

A

Autosomal or X-linked recessive

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3
Q

Why would patients with congenital immunodeficiencies be susceptible to cancers?

A

Susceptible to infection by oncogenic viruses

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4
Q

Patient with congenital immunodeficiency will likely present with which general symptoms?

A

Repeated and recurrent infections

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5
Q

Congenital immunodeficiencies can result from defects in lymphocyte (maturation/activation) or from defects in effector mechanisms of (innate/adaptive) immunity.

A

Any of those!

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6
Q

For many congenital immunodeficiencies, (X) can result in a cure.

A

X = bone marrow transplant

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7
Q

T/F: Many congenital immunodeficiencies are fatal if not treated.

A

True

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8
Q

T/F: Child with congenital immunodeficiency will manifest disease in first few days of life.

A

False

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9
Q

For the first (X) period of time after birth, children have immunity to fight infection from maternal (Y).

A 
X = 6 months
Y = IgG
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10
Q

Briefly describe histopathology you’d see in B cell deficiency.

A

Absent/reduced follicles and germinal centers in lymphoid organs

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11
Q

Briefly describe lab test abnormalities you’d see in B cell deficiency.

A

Reduced serum Ig levels

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12
Q

Briefly describe histopathology you’d see in T cell deficiency.

A

Reduced T cell zones in lymphoid organs

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13
Q

Briefly describe common infectious consequences you’d see in B cell deficiency.

A

Pyogenic (pus-inducing) and enteric bacterial infections

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14
Q

Briefly describe common infectious consequences you’d see in T cell deficiency.

A

Viral (and other intracellular) microbial infections/malignancies

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15
Q

In (X) immunodeficiencies, the histopathology and common infectious consequences can be quite variable (bacterial and viral).

A

X = innate

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16
Q

In pyogenic bacterial infection, (X) are essential to clear the infection because (Y).

A 
X = Ab and complement
Y = polysaccharide capsule makes bacteria resistant to phagocytosis
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17
Q

SCID, aka (X), is a(n) (congenital/acquired) immunodeficiency that’s a result of defective (Y).

A

X = Severe Combined Immunodeficiency
Congenital;
Y = lymphocyte (B and T cell) maturation

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18
Q

X-linked SCID: The mutation is in the gene encoding (X), required for (Y).

A 
X = cytokine receptor common gamma chain
Y = signal transduction
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19
Q

Mutation in gene encoding common (X) chain of cytokine receptor leads to (Y) disease. Which cytokine is affected?

A 
X = gamma
Y = X-linked SCID

A panel of them (IL2, 4, 7, 13, 15, 21)

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20
Q

X-linked SCID: defective T cell maturation is result of (high/low) (X) signals, which is especially necessary for (Y).

A

Low;
X = IL-7
Y = expansion/survival of early T cell progenitors in thymus

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21
Q

It’s primarily (X) cells that are deficient in X-linked SCID. Why, then, is (cell-mediated/humoral) immunity affected?

A

X = T and NK
Humoral;
No T cell help (CD4)

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22
Q

X-linked SCID: The lack of (X) indicates that the patient is especially deficient in which Ig subtype(s)?

A

X = CD4 T cell (help)

IgG, IgA, IgE

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23
Q

X-linked SCID: defective NK cell maturation is result of (high/low) (X) signals.

A

Low;

X = IL-15

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24
Q

Autosomal SCID: the real functional deficiency is (X), which is a result of (Y).

A 
X = progressive loss of T and B cells
Y = toxic metabolite accumulation in lymphocytes
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25
Q

T/F: In autosomal SCID, B and T cells are affected to an equal extent.

A

False - B cells to a lesser extent

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26
Q

Autosomal SCID: mutation in genes that code (X), which is/are involved in (Y).

A 
X = ADA and PNP enzymes
Y = purine metabolism
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27
Q

The first ever gene therapy trials were in a patient with (X) mutations, aka (Y) disease.

A 
X = ADA
Y = autosomal SCID
28
Q

The most common syndrome linked to B cell deficiency is (X), with decrease in which serum Ig isotypes?

A

X = XLA (X-linked agammaglobulinemia)

ALL

29
Q

The molecular cause of XLA is mutation in gene encoding (X), which is required by (Y) to (Z).

A 
X = Btk (tyrosine kinase)
Y = Pre-BCR
Z = signal and allow IgL rearrangement/progression of B cell development
30
Q

In XLA, (T/B)-cell development is suspended at which stage?

A

Pre-B cell

31
Q

T/F: XLA can be cured with modern medicine.

A

False

32
Q

Common treatment for XLA involves providing (active/passive) immunity via (X).

A

Passive;

IVIg (human IgG) every 3-4 weeks for life

33
Q

Bare lymphocyte syndrome is a deficiency in (X), thus also a deficiency in (Y).

A 
X = MHC Class II expression
Y = CD4 T cells
34
Q

Bare lymphocyte syndrome: the mutation is in genes encoding (X), which are necessary for (Y).

A 
X = transcription factors
Y = MHC class II expression
35
Q

Bare lymphocyte syndrome: there’s a lack of (X) expression on which cells?

A

X = MHC Class II

APCs and thymic epithelial cells

36
Q

T/F: Bare lymphocyte syndrome involves general deficiency in T cells.

A

False - only CD4 (not CD8)

37
Q

Bare lymphocyte syndrome: which specific process is affected?

A

Positive selection for CD4 T cells

38
Q

Hyper IgM syndrome: (increase/decrease) lymphocytes and (increase/decrease) of which Ig isotypes?

A

Normal numbers of lymphocytes;

high serum IgM, low serum IgG, IgA, IgE

39
Q

Hyper IgM syndrome: most common mutation is in gene encoding (X). What’s the mode of inheritance?

A

X = CD40L (on T cell)

X-linked

40
Q

Hyper IgM syndrome: less common mutation is in gene encoding (X). What’s the mode of inheritance?

A

X = CD40R

Autosomal recessive

41
Q

Disease involving mutations in IL-12 and IFN-gamma receptor genes. Which specific cell type/process would you expect to find defect in?

A

Th1 (differentiation)

42
Q

Disease involving mutations in IL-17 ligand and receptor genes. Which specific cell type/process would you expect to find defect in?

A

Th17 (differentiation)

43
Q

Chronic granulomatous disease (CGD) is (congenital/acquired), affecting (innate/adaptive) immune system. What’s the specific functional deficiency?

A

Congenital; innate

Inability of macrophages/neutrophils to efficiently kill phagocytosed microbes

44
Q

Chronic granulomatous disease (CGD): mutation in gene encoding (X), which is necessary for (Y).

A 
X = phagocyte oxidase
Y = production of ROS
45
Q

Leukocyte Adhesion Deficiency (LAD) is (congenital/acquired), affecting (innate/adaptive) immune system. What’s the specific functional deficiency?

A

Congenital;
Innate and adaptive

Inability of neutrophils/macrophages and T cells to traffic to site of infection

46
Q

In Leukocyte Adhesion Deficiency (LAD), a CBC would show abnormally (high/low) (X).

A

High;

X = WBC

47
Q

In Leukocyte Adhesion Deficiency (LAD), LAD-1 mutation is in gene encoding (X).

A

X = CD18 (beta-2 integrin common chain of leukocytes)

48
Q

In Leukocyte Adhesion Deficiency (LAD), LAD-2 mutation is in gene encoding (X).

A

X = E and P selectin ligands

49
Q

Mutations in C3 gene, leading to deficiency, makes patient especially susceptible to (X) infections due to defect in (Y).

A 
X = pylogenic bacterial
Y = opsonization (marking microbe for phagocytosis)
50
Q

T/F: Certain therapy treatments can cause acquired immunodeficiencies.

A

True - chemo and irradiation

51
Q

T/F: Removal of spleen can cause acquired immunodeficiency.

A

True

52
Q

List the modes of transmission of AIDS.

A
  1. Sexual intercourse
  2. Needles
  3. Blood transfusion
53
Q

HIV is primarily targeting (X) cells, but also targets (Y) cells.

A 
X = CD4 T
Y = macrophages and dendritic cells
54
Q

Which surface ligand(s) help HIV bind (X) cell’s (Y) receptor(s)?

A 
X = CD4 T
Y = CD4 and chemokine (CCR5)

gp120/gp41 ligand

55
Q

Aside from its (X) number of (DNA/RNA) copies, HIV carries which key enzymes?

A

X = 2
RNA;

  1. Reverse transcriptase
  2. Integrase
  3. Protease
56
Q

HIV is a typical (X) virus, with outer envelope made from (Y).

A 
X = retro-
Y = protein
57
Q

(X) cell(s) are likely initial hosts for HIV. And in the first, (Y), phase of infection, these cells transport virus to (Z).

A 
X = dendritic
Y = acute
Z = lymph tissue (node)
58
Q

During HIV infection, there’s a period of clinical latency (with little to no manifestations). What’s going on in this period?

A

Slow destruction of CD4 T cells

59
Q

The course of HIV disease is measured by amount of (X) in (Y).

A 
X = HIV and CD4 T cells
Y = blood
60
Q

A(n) (X) cell count that’s (greater/less) than (Y) is indicative of AIDS.

A

X = T
Less than
Y = 200 cells/mm3

61
Q

Lack of thymic shadow on chest x-ray is indicative of which (congenital/acquired) immunodeficiency?

A

Congenital;

X-linked SCID

62
Q

Anti-(X) Ab are used to screen for HIV.

A

X = envelope and p24

63
Q

T/F: Multiple types of MHC Class I molecules can be expressed on a given cell.

A

True

64
Q

T/F: Each MHC Class I molecule binds to its own specific cognate antigen protein.

A

False

65
Q

T/F: T cells can recognize antigen bound to either self or non-self MHC.

A

False

66
Q

T/F: MHC Class I has the primary role of recognition of self-peptides.

A

True

MI and Genomics (16 decks)

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