I&d Immunodeficiency

Front 1

The type of infection seen can often give a clue as to which immune components are defective.

What do extracellular bacterial infections suggest?

Back 1

Antibody defect

Front 2

The type of infection seen can often give a clue as to which immune components are defective.

What do viral, fungal and intracellular bacterial infections implicate (show)?

Back 2

The T-cell system is malfunctioned

Front 3

What kind of infections are most common in immunodeficient individuals?

Back 3

Respiratory or gastro-intestinal

Front 4

Infections can be by organisms that cause few problems in the immunocompetent host, but produce serious _____________ infections in immunodeficient individuals.

Back 4

Produce serious opportunistic infections in immunodeficient individuals

Front 5

Define 'Primary ID'

Back 5

The result of an inherited gene defect in a component of the immune system

Front 6

The result of an inherited gene defect in a component of the immune system

Back 6

Primary ID

Front 7

Define 'Secondary ID'

Back 7

Results from the effects of external agents, or breakdown in other body systems which affect the immune system

Front 8

Primary ID is common T/F

Back 8

False, it is 'rather rare'

Front 9

Primary ID can result in defects of the innate, but not adaptive immune system T/F

Back 9

False, it can affect both

Front 10

If there is a defect on an X chromosome, why are males more likely to be affected?

Back 10

Females have two X chromosomes, and so the second can code in place of the damaged gene

Front 11

The type of infection seen can often give a clue as to which immune components are defective.

What do extracellular bacterial infections suggest?

Back 11

Antibody defect

Front 12

The type of infection seen can often give a clue as to which immune components are defective.

What do viral, fungal and intracellular bacterial infections implicate (show)?

Back 12

The T-cell system is malfunctioned

Front 13

What kind of infections are most common in immunodeficient individuals?

Back 13

Respiratory or gastro-intestinal

Front 14

Infections can be by organisms that cause few problems in the immunocompetent host, but produce serious _____________ infections in immunodeficient individuals.

Back 14

Produce serious opportunistic infections in immunodeficient individuals

Front 15

Define 'Primary ID'

Back 15

The result of an inherited gene defect in a component of the immune system

Front 16

The result of an inherited gene defect in a component of the immune system

Back 16

Primary ID

Front 17

Define 'Secondary ID'

Back 17

Results from the effects of external agents, or breakdown in other body systems which affect the immune system

Front 18

Primary ID is common T/F

Back 18

False, it is 'rather rare'

Front 19

Primary ID can result in defects of the innate, but not adaptive immune system T/F

Back 19

False, it can affect both

Front 20

If there is a defect on an X chromosome, why are males more likely to be affected?

Back 20

Females have two X chromosomes, and so the second can code in place of the damaged gene

Front 21

Give an example of a primary immunodeficiency (PID) syndrome

Back 21

ChrImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)

Foxp3 gene

p11.23 location

Front 22

A defect in the beta-2 integrin gene, leading to deficiency of neutrophil function, can lead to which primary immunodeficiency disease?

Back 22

Leukocyte adhesion deficiency

Front 23

Failure of intracellular bacterial killing can lead to which primary immunodeficiency disease?

Back 23

Chronic granulomatous disease

Front 24

Primary immunodeficiency disease caused due to a mutation in any one of the genes encoding the components for the NADPH oxidase (most commonly the gp^91phax gene on the X chromosome)

Back 24

Chronic granulomatous disease

Front 25

Mutation of which gene most commonly leads to malfunctioning of NADPH oxidase, leading to chronic granulomatous disease? (A primary immunodeficiency disease)

Back 25

The gp^91phax gene

Front 26

What is the most common type of primary immunodeficiency?

Back 26

Selective IgA deficiency

Front 27

What deficiency does failure of B and T-cell development or function lead to? (Primary immunodeficiency wise)

Back 27

Isolated antibody and cell mediated deficiency

Front 28

Isolated antibody and cell mediated deficiency is caused by...

Back 28

Failure of B and T-cell development/function

Front 29

What is the primary immunodeficiency disease whereby no mature antibody-secreting B cells are produced?

Back 29

X-linked agammaglobulinaemia

Front 30

X-linked agammaglobulinaemia is caused by a defect in which gene?

Back 30

Bruton's tryosine kinase (Btk) gene

Front 31

What does a defect in the Btk (Bruton's tryosine kinase) gene cause?

Back 31

X-linked agammaglobulinaemia

Front 32

What is the physiological effect of X-linked agammaglobulinaemia?

Back 32

No mature antibody-secreting B cells are produced

Front 33

What is the effect of Di George syndrome (primary immunodeficiency disease)

Back 33

Thymus fails to develop during ontogeny (The development of an individual organism or anatomical or behavioral feature from the earliest stage to maturity)

Results in an absence of T-cells

Front 34

Which primary immunodeficiency disease describes:

Thymus fails to develop during ontogeny (The development of an individual organism or anatomical or behavioral feature from the earliest stage to maturity)

Results in an absence of T-cells

Back 34

Di George syndrome

Front 35

Which primary immunodeficiency disease leads to a defect in cytoskeletal organisation in lymphocytes and NK cells?

Back 35

Wiskott-Aldrich syndrome

Front 36

Wiskott-Aldrich syndrome is a primary immunodeficiency that leads to...

Back 36

A defect in cytoskeletal organisation in lymphocytes and NK cells

Front 37

What does the WASP gene encode? What chromosome is it on?

Back 37

Encodes 'Wiskott-Aldrich syndrome protein'.

It is on the X-chromosome

Front 38

Wiskott-Aldrich syndrome is caused by a mutation in which gene, on what chromosome?

Back 38

Mutation in the WASP gene, on the X-chromosome

Front 39

X linked hyper IgM syndrome is caused by mutation in which genes?

Back 39

X-linked or autosomal genes encoding CD40 ligand

OR

mutation in X-linked signalling molecule NEMO

Finding Nemo (:
1104291110

Front 40

What causes the primary immunodeficiency in X-linked hyper IgM syndrome?

Back 40

There is a lack of T-cell help via CD40-CD40L interactions

(Therefore B-cells unable to undergo glass switching from IgM to IgG and IgA
--> Therefore no secondary humoral response

Front 41

There is a lack of T-cell help via CD40-CD40L interactions

(Therefore B-cells unable to undergo glass switching from IgM to IgG and IgA
--> Therefore no secondary humoral response

This causes...

Back 41

...X-linked hyper IgM syndrome

Front 42

What is the effect on the immune system to an individual who has X-linked hyper IgM syndrome?

Back 42

B-cells are unable to undergo glass switching from IgM to IgG and IgA
--> Therefore no secondary humoral immune response

Front 43

Patients with X-linked hyper IgM syndrome do not have a secondary humoral immune response T/F

Back 43

T (Because of the lack of CD40-CD40L interactions due to little Th-cell support, B-cells cannot unergo glass switching from IgM to IgG and IgA

Front 44

What does the SH2D1A gene encode?

Back 44

An intracellular signaling molecule (duh!)

Important in X-linked lymphoproliferative disease (primary immunodeficiency)

Front 45

What does the XIAP gene encode?

Back 45

It encodes an inhibitor of apoptosis

Important in X-linked lymphoproliferative disease (primary immunodeficiency)

Front 46

What occurs in the primary immunodeficiency disease 'X-linked lymphoproliferative disease'?

Back 46

Mutation in either SH2D1A (encodes a signalling molecule) or XIAP (encodes an inhibitor of apoptosis)
--> Leads to susceptibility to infection with EBV

Front 47

Which virus are you particularly susceptible to if you contract the primary immunodeficiency disease 'X-linked lymphoproliferative disease'?

Back 47

Epstein-Barr virus (EBV)

Front 48

What does SCID stand for?

Back 48

Severe combined immunodeficiency

Front 49

In SCID, T-cell immunity AND humoral immunity is affected T/F

Back 49

T

Front 50

SCID is characterised by severe recurrent infections with many different pathogens T/F

Back 50

T

Front 51

Give some of the defects that can lead to SCID

Back 51

Mutation in X-linked common gamma chain (yc) (Used by several cytokine receptors)

Mutations in autosomal genes
--> e.g. those encoding adenosine deaminase (ADA)
RAG-1, RAG-2, JAK-3, Artemis component of the DNA-dependent protein kinase complex

Front 52

Mutation in X-linked common gamma chain (yc) (Used by several cytokine receptors)

Mutations in autosomal genes
--> e.g. those encoding adenosine deaminase (ADA)
RAG-1, RAG-2, JAK-3, Artemis component of the DNA-dependent protein kinase complex

Back 52

Defects that can lead to SCID

Front 53

What is the X-linked common gamma chain (yc) used for?

Back 53

Cytokine receptors

Front 54

RAG-1 and RAG-2 are what kind of genes?

Back 54

Recombination-activating genes

Front 55

Give two examples of recombination-activating genes.

Back 55

RAG-1 and RAG-2

Front 56

T, B and NK cells are always absent from SCID T/F

Back 56

False. T cells are, but not B and NK cells

Front 57

In terms of an antibody response, what does a lack of T-cells mean?

What is the effect if B-cells are present?

Back 57

That there will be no antibody responses, even if B-cells are present

Front 58

Are primary, or secondary immunodeficiencies more common?

Back 58

Secondary (or 'acquired') are far more common

Front 59

What is the other name for secondary immunodeficiencies?

Back 59

Acquired immunodeficiencies

Front 60

Give six predisposing factors leading to secondary immunodeficiency

Back 60

Malnutrition
Loss of cellular/hormonal components
Tumours
Cytotoxic drugs/irradiation
Diseases such as diabetes
Infections such as malaria, HIV (AIDS)

Front 61

What happens to antibodies in nephrotic syndrome? How is this relevant to immunodeficiency?

Back 61

Antibodies are lost into the urine in nephrotic syndrome. This can lead to secondary immunodeficiency

Front 62

Antibodies are lost into the urine in nephrotic syndrome. This can lead to secondary immunodeficiency

Back 62

Nephrotic syndrome

Front 63

What therapies are used to treat immunodeficiency?

Back 63

Antibiotic therapy
Passive gammaglobulin therapy (used for antibody deficiencies)
Bone marrow and haematopoietic stem cell transplantation (used for reconstitution of normal phagocytic function in chronic granulomatous disease (CGD) and of B and T-cells in SCID
Foetal liver and thymus grafts (risk of rejection

Ultimate will be gene therapy

Front 64

What treatment is used for immunodeficiency when the patient has antibody deficiencies?

Back 64

Passive gammaglobulin therapy

Front 65

In which forms of SCID has gene therapy been used for?

Back 65

yC, ADA

Front 66

Autoimmune diseases are very rarely caused by one gene, but give an example if one that is

Back 66

Foxp3

Front 67

How is the thymus affected in an individual with DiGeorge syndrome?

Back 67

It is not present

Front 68

Hyper IgM syndrome result in...

Back 68

Decreased levels of IgG, A and E