Primary Immunodeficiencies

Question 1

What is the prevalence of CVID?

Answer 1

1:10,000 - 1:25,000

Question 2

What is the prevalence of SCID?

Answer 2

1:50,000

Question 3

What is the most common PID?

Answer 3

CVID

Question 4

What is required for diagnosis of CVID?

Answer 4

reduced IgG +/- reduced IgA or IgM

Question 5

What is the treatment for CVID?

Answer 5

IVIG

Question 6

What type of infections would you expect in patients with a T cell defect?

Answer 6

fungal and viral

Question 7

What type of infections would you expect in patients with an antibody deficiency?

Answer 7

bacterial

Question 8

What type of infections would expect in patients with a phagocyte defect?

Answer 8

staphylocccal, fungal

Question 9

What type of infections would you expect in patients with a complement defect?

Answer 9

encapsulated organisms

Question 10

What type of infections would you expect in patients without a spleen?

Answer 10

encapsulated organisms

Question 11

In what disease is there absence of B cells?

Answer 11

x linked agammaglobulinaemia

Question 12

How would you functionally demonstrate a defect in humoral immunity?

Answer 12

measuring antibodies pre and post immunisation - would expect 4 fold increase 4 weeks post vaccination

Question 13

How does C1, C4 and C2 deficiency manifest?

Answer 13

as SLE-like autoimmunity

Question 14

How does C3 deficiency manifest?

Answer 14

recurrent/severe infections

Question 15

How does C5-C9 deficiency manifest?

Answer 15

neisseria and gonococcal infections

Question 16

What does TLR3 deficiency predispose patients to?

Answer 16

herpes simplex encephalitis

Question 17

What does CARD9 deficiency predispose patients to?

Answer 17

invasive fungal diseases