Immunogenetics Flashcards

1
Q

Aberrant immune reactions are aka

A

autoimmune diseases

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2
Q

The immune response uses

A

cells and cytokines

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3
Q

Two classes of lymphocytes for specific immunity

A

T cells
B cells

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4
Q

Innate immunity

A

non-specific

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5
Q

Innate immunity uses what

A

granulocytes, macrophages, natural killer cells, complement proteins

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6
Q

Adaptive or acquired immunity

A

specific immunity

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7
Q

Where are B and T cells derived from

A

progenitor cells in the bone marrow

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8
Q

Where do B cells develop

A

in the bone marrow

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9
Q

Where do T cells develop

A

in the thymus gland

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10
Q

B cell responses are for

A

humoral immunity

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11
Q

T cell responses are for

A

cellular immunity

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12
Q

Immune deficiency diseases can occur when

A

there is absence or decreased function of certain elements of the immune system

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13
Q

Receptors on B cells

A

antibodies

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14
Q

Receptors on T cells

A

T cell receptors

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15
Q

Humoral immunity

A

fights bacteria and viruses in body fluids with antibodies that circulate in blood plasma and lymph

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16
Q

B cells differentiate into

A

antibody producing cells
memory cells

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17
Q

Following antigen recognition, what is secreted

A

cytokines

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18
Q

What helps with classification of cell surface proteins

A

monoclonal antibodies

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19
Q

Plasma cells secrete what

A

immunoglobulins

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20
Q

Structure of immunoglobulins

A

1 of 5 heavy chains
paired with 2 light chains

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21
Q

How many isotypes are there for immunoglobulins

A

5
IgM
IgD
IgG
IgA
IgE

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22
Q

12-23 rule

A

A gene segment with a 12 base pair spacer can only be recombined with a gene segment containing a 23 base pair spacer

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23
Q

IgA

A

present in tears, nasal mucus, breast milk, intestinal secretions

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24
Q

IgD

A

Present in B-cell membranes

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25
Q

IgE

A

Binds to mast cells, releasing histamine responsible for allergic reaction

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26
Q

IgG

A

Primary blood-borne soluble antibodies
Crosses placenta

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27
Q

IgM

A

Present in B-cell plasma membrane
Mediates initial immune response
Activates bacteria-killing complement

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28
Q

T cells

A

responsible for lysis of virally infected cells and rejection of foreign tissue grafts
Regulatory function in amplifying and suppressing immune response

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29
Q

Major histocompatibility complex (MHC)

A

On Chromosome 6 with HLA region

30
Q

The inflammatory response is an

A

innate immunity response

31
Q

Complement cascade

A

Blood proteins that circulate and reside in tissue
Complement work of antibodies
Burst bacteria by creating pores in bacterial membrane

32
Q

Increased susceptibility to infection

A

chronic/recurrent infections without other explanation
Infection with organism of low virulence
Infection of unusual severity

33
Q

Incidence of primary immune deficiency disorders

A

1:2,000

34
Q

Male to female ration of primary immune deficiency disorders

A

5:1

35
Q

When are most primary immune deficiency disorders diagnosed

A

infancy

36
Q

Subgroups of primary immune deficiency disorders

A

antibody deficiency disorders
combined immune deficiency disorders
other well-defined immune deficiency disorders

37
Q

Selective IgA deficiency

A

most common primary immunodeficiency disease
Susceptibility to infection, recurrent infections, sinusitis, bronchitis,
Risk of autoimmune diseases
susceptibility to allergies

38
Q

X-linked agammaglobulinemia

A

Failure of B-cell precursors to mature into B-cells and ultimately plasma cells
Deficiency in tyrosine kinase (BTK)
No B cells in peripheral blood
Prone to infections of middle ear, sinuses, and lung

39
Q

X-linked hyper IgM syndrome

A

From failure of T-cell and B-cell interaction

40
Q

X-linked hyper IgM Syndrome levels

A

Normal or elevated levels of IgM
Low levels of other antibodies
Recurrent respiratory infections

41
Q

SCID

A

XL and AR
Combined absence of T-cell and B-cell
Results from deficiency of gamma chain of the interleukin 2R complex
1/3 caused by X-linked recessive mutations

42
Q

Adenosine Deaminase (ADA) Deficiency

A

Causes buildup of deoxyadenosine

43
Q

ADA and Purine Nucleoside Phosphorylase (PNP) disorders caused by defects in

A

purine metabolism pathways

44
Q

Ataxia telangiectasia

A

Progressive ataxia
telangiectasia (dilated blood vessels)
1:40,000-100,000
AR
Primary T cell deficiency

45
Q

ATM gene

A

11q22.3
tumor suppressor gene
Breast and ovarian lifetime risk of 15-20%

46
Q

Human Leukocyte Antigen (HLA) region antigens

A

A, B, and C on nucleated cells and platelets
DR and D on macrocytes, monocytes, B lymphocytes
Blood type compatibility is important

47
Q

HLA class I

A

A
B
C

48
Q

HLA class II

A

DR
DQ
DP

49
Q

HLA genes are inherited how

A

in a block - haplotypes

50
Q

T1D

A

Risk to siblings is 6%
Risk to offspring of affected fathers 4-6%
Risk to offspring of affected mothers 1-3%
Association with several HLA class II alleles

51
Q

HLA system accounts for what percent of familial clustering in T1D

A

40%

52
Q

T1D gene locus

A

HLA DQ
Insulin gene at chromosome 11p

53
Q

Risk with affected 1st degree relative with MS

A

2-4%

54
Q

Autoimmune Polyendocrinopathy type I (APS)

A

Mucocutaneous candidiasis (persistent infection with fungus)
Vitiligo (patches of skin to lose pigment)
Allopecia

55
Q

APS Type I Genetics

A

AR
AIRE gene
Increases expression of thymic self-antigens

56
Q

Generation of T cell receptor excision circles (TRECs) occur in what percentage of all new T cells and can be detected by PCR

A

> 70%

57
Q

T cell generation in newborns is done by two mechanisms

A

Thymic output
Postthymic T-cell proliferation

58
Q

What are the consequences of T cell generation in newborns

A

Majority of T cells are naive T cells
TRECs are diluted out

59
Q

B cells function to produce what

A

antibodies

60
Q

Which chain determines the class in immunoglobulins

A

heavy chain

61
Q

T cells are specialized to attack what

A

foreign antigens

62
Q

Early in fetal life, immature cells migrate where to be educated

A

Thymus

63
Q

Complement system is composed of how many proteins and what do they do?

A

30
Defend against infection and produce inflammation

64
Q

Primary immunodeficiency diseases involve what

A

intrinsic defects on immune cells

65
Q

Cancer immunotherapy

A

stimulating the natural defenses of your immune system so it works harder or smarter to find and attack cancer cells

66
Q

Checkpoint inhibitors

A

Drugs that take the breaks off the immune system, which helps to recognize and attack cancer cells

67
Q

Chimeric antigen receptor (CAR) t-cell therapy

A

takes T cells from patients, mixes with virus to teach cell to attach to tumor cells, and gives back to patient

68
Q

Cytokines

A

Small proteins that carry messages betweeen cells to stimulate immune cells to attack cancer

69
Q

Immunomodulators

A

Group of drugs that generally boosts parts of the immune system to treat certain types of cancer

70
Q

Monoclonal antibodies (mAbs or MoAbs)

A

man-made version of immune system proteins
mAbs can be useful in treating cancer because they can be designed to attack a very specific part of a cancer cell

71
Q

Oncolytic viruses

A

Uses viruses that have been modified in the lab to infect and kill certain tumor cells

72
Q
A