Immunogenetics Flashcards

(72 cards)

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
IgE
Binds to mast cells, releasing histamine responsible for allergic reaction
26
IgG
Primary blood-borne soluble antibodies Crosses placenta
27
IgM
Present in B-cell plasma membrane Mediates initial immune response Activates bacteria-killing complement
28
T cells
responsible for lysis of virally infected cells and rejection of foreign tissue grafts Regulatory function in amplifying and suppressing immune response
29
Major histocompatibility complex (MHC)
On Chromosome 6 with HLA region
30
The inflammatory response is an
innate immunity response
31
Complement cascade
Blood proteins that circulate and reside in tissue Complement work of antibodies Burst bacteria by creating pores in bacterial membrane
32
Increased susceptibility to infection
chronic/recurrent infections without other explanation Infection with organism of low virulence Infection of unusual severity
33
Incidence of primary immune deficiency disorders
1:2,000
34
Male to female ration of primary immune deficiency disorders
5:1
35
When are most primary immune deficiency disorders diagnosed
infancy
36
Subgroups of primary immune deficiency disorders
antibody deficiency disorders combined immune deficiency disorders other well-defined immune deficiency disorders
37
Selective IgA deficiency
most common primary immunodeficiency disease Susceptibility to infection, recurrent infections, sinusitis, bronchitis, Risk of autoimmune diseases susceptibility to allergies
38
X-linked agammaglobulinemia
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
X-linked hyper IgM syndrome
From failure of T-cell and B-cell interaction
40
X-linked hyper IgM Syndrome levels
Normal or elevated levels of IgM Low levels of other antibodies Recurrent respiratory infections
41
SCID
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
Adenosine Deaminase (ADA) Deficiency
Causes buildup of deoxyadenosine
43
ADA and Purine Nucleoside Phosphorylase (PNP) disorders caused by defects in
purine metabolism pathways
44
Ataxia telangiectasia
Progressive ataxia telangiectasia (dilated blood vessels) 1:40,000-100,000 AR Primary T cell deficiency
45
ATM gene
11q22.3 tumor suppressor gene Breast and ovarian lifetime risk of 15-20%
46
Human Leukocyte Antigen (HLA) region antigens
A, B, and C on nucleated cells and platelets DR and D on macrocytes, monocytes, B lymphocytes Blood type compatibility is important
47
HLA class I
A B C
48
HLA class II
DR DQ DP
49
HLA genes are inherited how
in a block - haplotypes
50
T1D
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
HLA system accounts for what percent of familial clustering in T1D
40%
52
T1D gene locus
HLA DQ Insulin gene at chromosome 11p
53
Risk with affected 1st degree relative with MS
2-4%
54
Autoimmune Polyendocrinopathy type I (APS)
Mucocutaneous candidiasis (persistent infection with fungus) Vitiligo (patches of skin to lose pigment) Allopecia
55
APS Type I Genetics
AR AIRE gene Increases expression of thymic self-antigens
56
Generation of T cell receptor excision circles (TRECs) occur in what percentage of all new T cells and can be detected by PCR
>70%
57
T cell generation in newborns is done by two mechanisms
Thymic output Postthymic T-cell proliferation
58
What are the consequences of T cell generation in newborns
Majority of T cells are naive T cells TRECs are diluted out
59
B cells function to produce what
antibodies
60
Which chain determines the class in immunoglobulins
heavy chain
61
T cells are specialized to attack what
foreign antigens
62
Early in fetal life, immature cells migrate where to be educated
Thymus
63
Complement system is composed of how many proteins and what do they do?
30 Defend against infection and produce inflammation
64
Primary immunodeficiency diseases involve what
intrinsic defects on immune cells
65
Cancer immunotherapy
stimulating the natural defenses of your immune system so it works harder or smarter to find and attack cancer cells
66
Checkpoint inhibitors
Drugs that take the breaks off the immune system, which helps to recognize and attack cancer cells
67
Chimeric antigen receptor (CAR) t-cell therapy
takes T cells from patients, mixes with virus to teach cell to attach to tumor cells, and gives back to patient
68
Cytokines
Small proteins that carry messages betweeen cells to stimulate immune cells to attack cancer
69
Immunomodulators
Group of drugs that generally boosts parts of the immune system to treat certain types of cancer
70
Monoclonal antibodies (mAbs or MoAbs)
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
Oncolytic viruses
Uses viruses that have been modified in the lab to infect and kill certain tumor cells
72