Immuno 2: Primary Immuno Defficiency

Question 1

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

Answer 1

Reticular dysgenesis

• causes recessive severe SCID

Question 2

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

Answer 2

Kostmann syndrome

-Causes autosomal recessive congenital neutropenia

Question 3

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

Answer 3

Cyclical neutropenia

Question 4

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

Answer 4

CD11a

CD18

Question 5

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

Answer 5

ICAM-1

Question 6

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

Answer 6

Leukocyte adhesion deficiency (LAD)

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

Question 7

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

Answer 7

Chronic Granulomatous disease

Also get lymphadenopathy and hepatosplenomegaly

Question 8

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

Answer 8

Nitroblue tetrazolium test (NBT)

DIhydrorhodamine flow cytometry test

Question 9

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

Answer 9

IL12

IFN gamma

Question 10

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

Answer 10

Atypical mycobacterium infections

Question 11

What is the treatment for Chronic Granulomatous disease ?

Answer 11

Interferon Gamma therapy

Question 12

What is the definitive treatment of primary immunodeficiency diseases ?

Answer 12

Haematopoietic stem cell transplant

Question 13

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

Answer 13

Herpes Virus infections

Question 14

Where are complement proteins produced ?

Answer 14

The liver

Question 15

What type of infection are people with complement deficiency prone to

Answer 15

Encapsulated Bacteria

Question 16

Give 3 examples of encapsulated bacteria ?

Answer 16

Neisseria Meningitides
Haemophilus Influenza
Streptococcus Pneumoniae

Question 17

How can complement deficiency lead to increased Immune complex deposition ?

Answer 17

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.

Question 18

Which disease is really common in patients with C2 deficiency ?

Answer 18

SLE

• with severe skin disease

Question 19

What are nephritic factors ?

Answer 19

Auto-antibodies against C3

Question 20

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

Answer 20

C3

Question 21

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

Answer 21

Glomerulonephritis (membranoproliferative)
Partial lipodystrophy (abnormal fat distribution)

Question 22

What is the functional test for the classical complement pathway ?

Answer 22

CH50

Question 23

What is the functional test for the Alternate complement pathway ?

Answer 23

AP50