T Cell Immune Deficiency Disorders

Question 1

What is the defect in DiGeorge syndrome (Thymic aplasia)?

Answer 1

22q11 deletion (CATCH 22) causing a failure of development of the 3rd and 4th pharyngeal pouches

Question 2

How would DiGeorge present?

Answer 2

Tetany (hypocalcemia)
Recurrent viral/fungal infections (T cell deficiency)
Congenital Heart and Great vessel Defects

Question 3

What lab findings might you see in DiGeorge Syndrome?

Answer 3

Decreased T cells
Decreased PTH
Decreased Ca2+

Absent thymic shadow on CXR

Question 4

What is the defect in IL-12 Receptor Deficiency?

Answer 4

Decreased TH1 response

Question 5

How would IL-12 Receptor Deficiency present?

Answer 5

Disseminated mycobacterial infections

Question 6

What lab findings might you see in IL-12 Receptor Deficiency?

Answer 6

Decreased IFN-y

Question 7

What is the defect in Hyper-IgE Job Syndrome ?

Answer 7

Failure of TH1 to produce IFN-y leading to inability of NEU to respond to chemotactic stimuli

Question 8

How would Hyper-IgE Job Syndrome present?

Answer 8

Coarse Facies
Non-inflamed Staph Abscesses
Retained Primary teeth
Increased IgE
Dermatologic problems (eczema)

Question 9

What lab findings might you see in Hyper-IgE Job Syndrome?

Answer 9

Increased IgE

Question 10

What is the defect in Chronic Mucocutaneous Candidiasis?

Answer 10

T cell dysfunction

Question 11

How would Chronic Mucocutaneous Candidiasis present?

Answer 11

Candida albicans infection of skin and mucous membranes