Pathoma: Primary Immunodeficiency

Question 1

DiGeorge is caused by _________.

Answer 1

microdeletion of chromosome 22q11

Question 2

In DiGeorge syndrome, the ________ fail to develop.

Answer 2

3rd and 4th pharyngeal pouches

Question 3

SCID can be caused by _____________.

Answer 3

defects in cytokine receptors, MHC II receptors, and adenosine deaminase

Question 4

Why does MHC II defect lead to SCID?

Answer 4

Because CD4+ T cells need MHC to be activated and B cells need MHC II to be activated

Question 5

X-linked agammaglobulinemia is caused by defects in _________.

Answer 5

BTK (Bruton’s tyrosine kinase), necessary for B cell maturation

Question 6

Those with Bruton’s are at increased risk for __________.

Answer 6

bacterial, enterovirus, and giardia infections

Question 7

CVID patients are often ___________.

Answer 7

asymptomatic

Question 8

Antibody is needed to kill _________.

Answer 8

bacterial, enterovirus, and giardia infections

Question 9

Hyper IgM syndrome is caused by _______.

Answer 9

defects in CD40

Question 10

Symptoms of hyper IgM syndrome include _________.

Answer 10

recurrent pyogenic infections (due to missing IgG) and recurrent infections at mucosal sites (due to missing IgA)