E3-PRIMARY Immunodeficiency Disorders

Question 1

What is the difference between primary and secondary immunodeficiency disorders?

Answer 1

Primary=congenital (this flashcard set), Secondary=Aquired

Question 2

When are primary immunodeficiencies manifested?

Answer 2

Between 6 months and 2 years of age (WHEN MOTHERS antibodies wear off)

Question 3

What two genetic conditions are most common for Primary Immunodeficiency?

Answer 3

X linked, and autosomal recessive

Question 4

Which two immune cells are affected the most in a Primarry ID?

Answer 4

B-Cells and T-cells

Question 5

Which primary ID is aka “thymic hypoplasia”?

Answer 5

DiGeorge Syndrome

Question 6

Which embryologic structures were defective in DiGeorges Syndrome? What are the fully developed structures that are affected?

Answer 6

The 3rd and 4th Pharyngeal Pouches did not develop, therefore there is no thymus and 2 out of the 4 parathyroid glands

Question 7

Why are DiGeorges babies not able to fight Virus, Fungus, and Parasite infections, but can handle bacteria?

Answer 7

This is due to not having a thymus and no T-cells, but having B-Cells. T-cells=Virus, Parasite, and Fungus…B-cells=Bacteria!

Question 8

What are 90% of DiGeorges cases caused by?

Answer 8

Sporatic deletion of chromosome 22

Question 9

What is 10% of DiGeorges caused by?

Answer 9

An autosomal dominant deletion of chromosome 22

Question 10

Which Primary ID are heart defects (especially the great vessels) linked to?

Answer 10

Di Georges Syndrome

Question 11

Which Primary ID is linked to severe hypocalcemia and tetany, due to a lack of the parathyroid glands?

Answer 11

DiGeorges Syndrome