Primary Immunodeficiency (1)

Question 1

How is immunodeficiency classified? What causes them?

Answer 1

1. Primary
2. Secondary
3. Physiological

Question 2

What clinical features are suggestive of immunodeficiency?

Answer 2

Infection

Question 3

What are features that suggest primary immune deficiency?

Answer 3

-

Question 4

What are the common lab tests we use to detect primary immunodeficiency?

Answer 4

Lab tests

Question 5

What is the innate immune system made of?

Answer 5

-

Question 6

What are the functions of phagocytes?

Answer 6

Functions:

Question 7

Name the polymorphonuclear cells (granulocytes). Where are they produced? What do they release?

Answer 7

-

Question 8

Name the monocytes of these organs. Where are monocytes produced? Where are they stored? What do they differentiate into?

Answer 8

-

Question 9

Describe the function of macrophages.

Answer 9

1. Macrophages in site of infection.
2. Endothelial cell activation increases expression of adhesion molecules.
3. Mobilisation of phagocytes and precursors from bone marrow or within tissues.
4. Increased neutrophil adhesion and migration into infected tissues.
5. Phagocytosis of organism.
6. Oxidative and non-oxidative killing
7. Macrophages present to T cells
8. Phagocytes die.

Question 10

What are the causes of phagocyte deficiency?

Answer 10

1. Failure to produce neutrophils.
2. Defect of phagocyte migration.
3. Failure of oxidative killing mechanisms.
4. Cytokine deficiency

Question 11

What are the causes of failure of production of neutrophils?

Answer 11

-

Question 12

What are the causes of defects of phagocyte migration?

Answer 12

-

Question 13

What are the causes behind failure of oxidative killing mechanisms?

Answer 13

-

Question 14

How can we investigate chronic granulomatous disease?

Answer 14

-

Question 15

What cytokine deficiency causes phagocyte deficiency? What is the normal process?

Answer 15

-

Question 16

What is the result of having a phagocyte deficiency?

Answer 16

-

Question 17

What tests would we use to detect phagocyte deficiency? What results would we expect?

Answer 17

*

Question 18

How do we treat phagocyte deficiencies?

Answer 18

-

Question 19

What are natural killer cells? Why are they important?

Answer 19

• Lymphocytes
• Have activating and inhibitory receptors.
• The inhibitory receptors are very important as they recognise HLA class 1 (or self-HLA) –> prevent inappropriate activation by normal self - overrides activation
• If a cell is infected, it loses the HLA 1 and the NK cell becomes activated and kills the cell

Question 20

What are the types of natural killer cell deficiencies?

Answer 20

-

Question 21

What is the result of having NK cell deficiency?

Answer 21

Viral Infection as NK cells kill target cells.

Question 22

What is the treatment of NK cell deficiencies?

Answer 22

-

Question 23

What disease does a patient with recurrent infections with high neutrophil count on FBC but no abscess formation have?

Answer 23

Leukocyte adhesion deficiency

Question 24

What disease does a patient with recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test have?

Answer 24

Chronic granulomatous disease.

Question 25

What does a patient with recurrent infections with no neutrophils on FBC have?

Answer 25

Kostmann syndrome

Question 26

What does a patient with infection with atypical mycobacterium and normal FBC have?

Answer 26

IFN gamma receptor deficiency

Question 27

What does a patient with severe chickenpox and disseminated CMV infection have?

Answer 27

Classical NK cell deficiency

Question 28

What is the complement system? What is their function

Answer 28

-

Question 29

Name the 3 pathways of complement activation

Answer 29

-

Question 30

Describe the classical pathway

Answer 30

Adaptive immune response.

Question 31

Describe the MBL pathway.

Answer 31

Kicks in early.

Question 32

Describe the alternate pathway

Answer 32

Kicks in quite early.

Question 33

What is the significance of C3?

Answer 33

-

Question 34

What other roles do complement play in immune response?

Answer 34

-

Question 35

What happens if you have complement deficiency?

Answer 35

-

Question 36

What happens if you have classical pathway deficiency?

Answer 36

Fail to produce complement fragment - no phagocytes - nuclear debris --> autoimmune disorder.

Question 37

What happens if you have MBL deficiency?

Answer 37

-

Question 38

What is shown in this image?

Answer 38

Meningococcal septicaemia - result of complement deficiency.

Question 39

What can active SLE cause?

Answer 39

Low c4 and then low c3

Question 40

What can nephritic factors cause?

Answer 40

-

Question 41

How do we investigate the complement pathway

Answer 41

- Function complement test: - -CH50 --> classical pathway (1,2,3,4,5-9) - -AP50 --> alternative pathway (3, 5-9)

Question 42

What would the Ix show for c1q deficiency, properidin deficiency, C9 deficiency and SLE?

Answer 42

Properidin part of alternate pathway

Question 43

How do we manage patients with complement deficiencies?

Answer 43

-

Question 44

Question

Answer 44

C7 deficiency

Question 45

Question.

Answer 45

C1q deficiency