Exam 2 Diseases Flashcards
1
Q
XL SCID mutation
A
Xq13.1 IL-2 Receptor
2
Q
XL SCID mutation downstream effect
A
IL-7R can’t form properly, so IL-7 can’t form
3
Q
XL SCID treatment
A
Pooled gamma globulins
4
Q
DiGeorge syndrome mutation
A
22q11.2 thymic aplasia
5
Q
Which disease likely not inherited
A
DiGeorge (90% de novo deletion)
6
Q
DiGeorge clinical presentation
A
Cleft palate, craniofacial disorders
7
Q
MHC deficiency - what are the two diseases
A
BLS I and BLS II
8
Q
BLS I
A
MHC I deficiency
9
Q
BLS II
A
MHC II deficiency
10
Q
BLS I patients are more prone to
A
intracellular parasites, viral infections
11
Q
BLS I caused by mutation in
A
TAP I
12
Q
BLS II is a form of
A
SCID
13
Q
What is not functional in BLS II
A
Th1 and Th2
14
Q
CGD, Bridges Good syndrome, Quie syndrome is a ____ deficiency
A
Phagocyte
15
Q
CGD/Quie syndrome causes
A
neutrophil dysfunction
