Immunodeficiences Phagocyte Dysfunction

Question 1

An 2 month old infant that has delayed separation of umbilical cord, neutrophilia and absent pus formation? Dx? What is the defect?

Answer 1

Leukocyte adhesion deficiency

Defect: LFA-1 integrin protein (*CD 18)

Question 2

A patient has recurrent pyogenic infections by staphylcocci and strepococci and has fair skin and blonde hair (albinisim); on smear, there were giant granules in granulocytes and platelets. Dx? What is the defect?

Answer 2

Chediak-Higashi Syndrome

Defect: Lysosomal trafficking regulator gene

Question 3

To traffic proteins to lysosome, what do you need to put on the protein?

Answer 3

Mannose-6-phosphate

Question 4

Describe Chediak-Higashi Syndrome in one phase?

Answer 4

Bullet Train track malfunction

Question 5

A patient has recurrent Psuedomonas and fungi (Candida/aspergillus) and the nitroblue tetrazolium dye is negative. Dx? What is the defect

Answer 5

CGD

Defect: Defect of NADPH oxidase