Immuno 2: Primary Immuno Defficiency Flashcards

1
Q

Which Primary immunodeficiency disease is autosomal recessive and prevents stem cells from differentiating along myeloid or lymphoid cell Lines ?

A

Reticular dysgenesis

  • causes recessive severe SCID
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Which primary immunodeficiency disease is characterised by failure of development of neutrophils ?

A

Kostmann syndrome

-Causes autosomal recessive congenital neutropenia

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

Which primary immunodeficiency disease is characterised by cycles of reduced neutrophils (e.g every month) ?

A

Cyclical neutropenia

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

Which two Cluster of differentiation (CD) markers make up LFA-1 ?

A

CD11a

CD18

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

What is the endothelial cell receptor for LFA-1 that regulates Neutrophil adhesion/transmigration ?

A

ICAM-1

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

In which primary immunodeficiency disease do you get a defect in Neutrophil adhesion/transmigration across endothelial cells ?

V high neutrophil count and no pus formation

A

Leukocyte adhesion deficiency (LAD)

-CD18 deficiency causes LFA-1 defect which stops it binding to ICAM-1

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

In which Primary immunodeficiency disease do you have a failure of oxidative killing mechanisms causing excessive inflammation and granulomas ?

A

Chronic Granulomatous disease

Also get lymphadenopathy and hepatosplenomegaly

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

Which 2 tests can be used to diagnose Chronic Granulomatous disease ?

A

Nitroblue tetrazolium test (NBT)

DIhydrorhodamine flow cytometry test

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

Which 2 cytokines are important in activation signalling between macrophages and T cells ?

A

IL12

IFN gamma

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

Deficiency of either IL12 or IFN gamma causes an increase of infections with …….

A

Atypical mycobacterium infections

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

What is the treatment for Chronic Granulomatous disease ?

A

Interferon Gamma therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the definitive treatment of primary immunodeficiency diseases ?

A

Haematopoietic stem cell transplant

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

Which infections are people with Natural killer cell deficiency particularly at risk of ?

A

Herpes Virus infections

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

Where are complement proteins produced ?

A

The liver

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

What type of infection are people with complement deficiency prone to

A

Encapsulated Bacteria

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

Give 3 examples of encapsulated bacteria ?

A

Neisseria Meningitides
Haemophilus Influenza
Streptococcus Pneumoniae

17
Q

How can complement deficiency lead to increased Immune complex deposition ?

A

Without complement phagocytes aren’t activated so necrotic cells aren’t cleared. This causes a lot of self antigens such as dsDNA to float around. This can trigger an auto-immune response. The antibodies bind to the antigens causing complex formation which deposits in skin and joints etc. Normaly complement stimulates clearance of immune complexes by Erythrocytes which does happen in the case of Complement deficiency.

18
Q

Which disease is really common in patients with C2 deficiency ?

A

SLE

  • with severe skin disease
19
Q

What are nephritic factors ?

A

Auto-antibodies against C3

20
Q

Which complement molecule becomes deficient when there are nephritic factors present ?

A

C3

21
Q

List 2 diseases that are associated with acquired C3 deficiency (e.g due to nephritic factors)?

A
Glomerulonephritis (membranoproliferative)
Partial lipodystrophy (abnormal fat distribution)
22
Q

What is the functional test for the classical complement pathway ?

A

CH50

23
Q

What is the functional test for the Alternate complement pathway ?

A

AP50