7331 Test 1

Question 1

Omenn Syndrome

cause?
treatment?

Answer 1

cause: missense mutation in RAG1 and RAG 2
treatment: bone marrow transplant

Question 2

X linked immunodeficiency

cause?
treatment:

Answer 2

cause: lack functioning CD40 ligand
treatment: IV or SQ Ig

Question 3

Bare Lymphocyte Syndrome

cause?
treatment?

Answer 3

cause: lack MHC II on surface of B cells and monocytes
treatment: hematopoietic stem cell transplantation

Question 4

X linked SCID

cause?
treatment?

Answer 4

cause: lack of T and B lymphocytes; cannot synthesize gamma chain
treatment: only cure is bone marrow transplant

Question 5

ZAP-70 immunodeficiency

cause?
treatment?

Answer 5

cause: ZAP proteins cannot phosphorylate ITAMs which are critical to initiation of signaling process and for T cell differentiation
treatment: bone marrow transplant

Question 6

Gaucher’s Disease

cause?
treatment?

Answer 6

cause: deficiency in glucosylceramidase; cannot degrade RBCs
treatment: enzyme replacement therapy

Question 7

Chronic Granulomatous Disease

cause?
treatment?

Answer 7

cause: defect in NADPH oxidase system; cannot produce ROS
treatment: antibiotics

Question 8

MPO Deficiency

cause?
treatment?

Answer 8

cause: MPO deficiency
treatment: antifungals