Primary immune deficiencies

Question 1

What is affected in a skin burn?

Answer 1

External epithelium, causing loss of keratinised cells and sebaceous glands, leading to infection

Question 2

What deficiency causing recurrent respiratory and gastrointestinal tract infections and why?

Answer 2

IgA deficiency due to lack of IgA in secreted mucous or cilia

Question 3

Antibiotics can wipe out gut bacteria. What organisms often colonise?

Answer 3

Candida albicans
Clostridium difficile

Question 4

Name a condition where phagocyte deficiency causes a decrease in the production of neutrophils

Answer 4

Reticular dysgenesis

Question 5

What is the problem in reticular dysgenesis?

Answer 5

There is a failure of stem cells to differentiate along the myeloid/lymphoid lineage, so you get lack of neutrophils, lymphocytes, monocytes, macrophages and platelets ESP NEUTROPHILS

Question 6

What mutation is associated with reticular dysgenesis?

Answer 6

AK2 = mitochondrial energy metabolism enzyme adenylate kinase 2