Immunodeficiencies

Question 1

CD4: Low
CD8: Low
Bcell: Low
IgM: Low
IgG: Low
IgA: Low

Answer 1

SCID

Note: they may have preserved or even high levels of b cells however these are pre- b cells and are non functioning

Question 2

CD4: Normal
CD8: Normal
Bcell: Normal
IgM: High
IgG: Low
IgA: Low

Answer 2

Hyper Ig M

Question 3

CD4: Normal
CD8: Normal
Bcell: Low
IgM: Low
IgG: Low
IgA: Low

Answer 3

Brutons

Question 4

CD4: Low
CD8: Low
Bcell: normal
IgM: Normal
IgG: Low
IgA: Low

Answer 4

Di George

Question 5

CD4: Low
CD8: Normal
Bcell: Normal
IgM: Normal
IgG: Low
IgA: Low

Answer 5

Bare T lymphocyte syndrome

Question 6

CD4: Normal
CD8: Normal
Bcell: Normal
IgM: Normal
IgG: Normal
IgA: Low

Answer 6

selective IgA deficiency

Question 7

CD4: Normal
CD8: Normal
Bcell: Normal
IgM: normal/Low
IgG: Low
IgA: Low
IgE: Low

Answer 7

Common Variable immune deficiency

Same as Hyper IgM in that the defect is in class switching but doesnt produce LOADS of IgM

Question 8

leukocyte adhesion markers are normal, Nitro blue test is negative and there is no pus.

Answer 8

kostmans and would also show a neutropenia

Question 9

leukocyte adhesion markers are abnormal, Nitro blue test is normal and there is no pus.

Answer 9

leukocyte adhesion deficiency they would have a slightly increased neutrophil count in infections.

Question 10

LAMs are normal and there is pus. NBT is abnormal.

Answer 10

Chronic granulomatous disease

would have a normal neutrophil count

Question 11

What is the gene mutation involved in reticular dysgenesis?

Answer 11

AK2

This is the most severe form of SCID which results in absence of myeloid and lympoid cells. BMT is the only cure otherwise will die in early life

Question 12

What would ou expect to see in a child with wiscott aldrich syndrome?

Answer 12

Eczema - Raised IgE
Bloody diarrhoea - Raised IgA
Nose bleeds - Low platelets

Low IgM recurrent infection

WASp gene - X linked recessive

Question 13

What does an abnormal AP50 test show?

Answer 13

Dysfunctional alternative pathway. this pathway is involved in killing bacteria and encapsulated organisms are likely to cause a lot of illnes.

Question 14

What does an abnormal CH50 show?

Answer 14

Defect in Classical pathway with lack of either c1q/r/s, C2, and c4. Involved in removing immune complexes too. therefore often assocaited with SLE.

Question 15

What does an abnormal CH50 AND AP50 mean?

Answer 15

Common pathway defiency eg: C3/5/6/7/8/9

They get meningtitis and pneumonia as they cannot form MAC.

Question 16

What would a MBL deficiency yield?

Answer 16

Very little clinical significane and are quite common but no lectin pathway for activation.

Question 17

What factors are in the alternative compliment pathway?

Answer 17

B
I
P