Primary Immunodeficiency

Question 1

Most Common Immunodeficiency

Answer 1

Selective IgA deficiency

Question 2

Presentation of Bc vs. SCID Deficiencies

Answer 2

After 6 months vs. immediately

Question 3

X-Linked Agammaglobulinemia

Answer 3

Defect in Btk, so absence in all mature B cells

Question 4

WAS gene

Answer 4

Primarily affects platelets, DCs, and macs

Question 5

X-Linked Severe Combined Immunodeficiency

Answer 5

Defect in common gamma chain for Ts which wipes out whole adaptive immune system bc Bs are useless without Ts

Question 6

DiGeorge Syndrome

Answer 6

SCID from thymic aplasia

Question 7

Hyper IgM Syndrome

Answer 7

Downstream Bc effect, deficiency in AID or CD40L which are required for class switch

Question 8

Bc vs. SCID Dominant Infections

Answer 8

Respiratory bacterial vs. Viral

Question 9

Bc vs. SCID Treatments

Answer 9

IVIG or BMT (cure) vs. BMT or stem cell/gene therapy