Immunodeficiences T-cell disorders

Question 1

22q11 deletion; failure

to develop 3rd and 4th pharyngeal pouches

Answer 1

Thymic aplasia (DiGeorge syndrome)

Question 2

With DiGeorge syndrome, what do you get?

Answer 2

􏰀absent thymus and parathyroids.

Question 3

With T-cell dysfunctions, what kind of infections do you get the most?

Answer 3

recurrent viral/fungal

Question 4

IL-12 def. MOA?

Answer 4

Decreased Th1 response, AR

Question 5

Deficiency of Th17 cells due to STAT3 mutation?

Answer 5

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 6

Job Syndrome leads to?

Answer 6

impaired recruitment of neutrophils to sites of infection.

Question 7

FATED in Job?

Answer 7

Facies, 
cold (noninflamed) staphylococcal 
Abscesses, 
retained primary Teeth
,􏰁IgE, 
Dermatologic problems (eczema).

Question 8

Noninvasive Candida albicans infections of skin and mucous membranes.

Answer 8

Chronic mucocutaneous candidiasis