Immunodeficiencies - Grayson

Question 1

If you are asplenic, what are you most susceptible to?

Answer 1

encapsulated extracellular bacterial infections

Question 2

If you have a C3 deficiency, what are you susceptible to?

Answer 2

Re-current infections with gram negative bacteria

Question 3

If you have CGD, what are you most susceptible to?

Answer 3

Chronic bacterial and fungal infections. Mutation is in NADH oxidase (NOX2) –> impaired neutrophil production –> no ROS

Question 4

What can you not make if you have a mutation in NOX2?

Answer 4

Superoxide. This is the problem with CGD patients

Question 5

Loss of ____+ T Cells Is Driving Event in HIV Disease

Answer 5

Loss of CD4+ T Cells Is Driving Event in HIV Disease

Question 6

X-linked agammaglobulinemia as an affected __ gene, which block __ cell development. With this disease, you end up getting reucrrent bacterial infections.

Answer 6

X-linked agammaglobulinemia as an affected BTK gene, which block B cell development (can’t go passed quality control). With this disease, you end up getting recerrent bacterial infections.

Question 7

What does AIRE do?

Answer 7

It is a transcription factor that drives expression of non-thymic proteins in the thymus so that you get a broader negative selection.

Question 8

What is IPEX

Answer 8

It is a mutation in FOX3P. Without FOX3P, no Tregs!

Question 9

If a patient has X-gammaglobulinemia, what are some ways you can treat the patient?

Answer 9

Inject immunoglobulins (give him what he cannot make). Or you can give these people hematopoeitic stem cells.

Question 10

If you want to see if someone has HIV, what would you test for?

Answer 10

HIV antibodies

Question 11

Why does infectious virus in plasma initially decrease, and then incease (red line)

Answer 11

T cell exhaustion.

T cells initially get activated by the virus, but the problem is that they keep on getting stimulated. They get stimulated over and over and over again and experience AICD (activation induced cell death). As a result of this over stimulation, they upregulate inhibtory receptors like PD1. During an infection the ligands like PDL1 are also around.

What happens is that the cells that these T cells that were once polyfunctional (after getting PD1 signaling), turn off. Now, when viral load goes up, you lose CD4 function and you can’t get CD4 help, and now you get opportuitstic infections. Now the patient is very suscpetible to extracellular bacterial infections.

Question 12

___ ____ ___ rapidly lowers viral load in HIV patients

Answer 12

Anti-retro viral therapy