Pathology EMQ template.

Name: Darryl Rebello

Candidate number:

Theme: Defects in Primary Immunodeficiency

 

OPTION LIST

 

A	22q14 deletion	I	LYST defect
B	ADA deficiency	J	None of the above
C	ATM defect	K	PNP deficiency
D	CD18 gene mutation	L	Regulatory Factor X defect
E	Defective CD40L gene	M	SH2D1A defect
F	Defective DNA Helicase	N	TAP mutations
G	Defective WASP	O	TBX1 deletion
H	Loss of Btk	P	Unknown

 

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1.      Bare Lymphocyte Syndrome

 

 

2.      Common Variable Immune Deficiency

 

 

3.      DiGeorge Syndrome

 

 

4.      Hyper IgM Syndrome

 

 

5.      X-linked SCID

 

 

 

ANSWERS

1. L

2. P

3. O

4. E

5. J