Exam #4

Question 1

MHC Class I Deficiency

Answer 1

Normal Cd4+ low Cd8+, normal Ab, normal DTH

Question 2

Bare lymphocyte syndrome

Answer 2

low Cd4+, variably hypogammaglobulenemia

Question 3

chronic granulomatous disease

Answer 3

deficient in NADPH oxidase (produces ROS)

defective elimination of extracellular pathogens

Question 4

Chediak-higashi syndrome

Answer 4

No NK activity

Question 5

G6P deficiency

Answer 5

same as chronic ganulomatous disease - no NADPH oxiase

associated with anemia

Question 6

leukocyte adhesion deficiency

Answer 6

lack of LFA-1, defective migration of neutrophils

Question 7

IgA deficiency

Answer 7

low IgA, normal IgG and IgM

Question 8

hyper IgM syndrome

Answer 8

high IgM, low IgG, IgA

Question 9

isolated IgG subclass deficiency

Answer 9

total IgG, M, A, E normal

Question 10

common variable immune deficiency

Answer 10

CD19 mutation, hypergammaglobulinemia
no class switching = no plasma cells
low IgG, IgA; normal IgM

Question 11

ADA deficiency (both B and T cells)

Answer 11

accumulation of toxic metabolic byproducts

T- B- NK-

Question 12

Wilskott Aldrich syndrome

Answer 12

progressive decrease in T cells
low IgM; IgG normal
IgA and IgE high
bruising

Question 13

X-linked agammaglobulemia

Answer 13

BTK deficiency
no heavy chain arrangement
low/absent IgG, IgA, IgM

Question 14

autosomal recessive agammaglobulemia

Answer 14

low/absent IgG, IgA, IgM

Question 15

transient hypogammaglobulemia of infancy

Answer 15

Ig production delayed

low IgG, IgA; IgM normal

Question 16

common gamma chain deficiency

Answer 16

X-linked

T- B+ NK- (B cells not functional)

Question 17

diGeorge syndrome

Answer 17

thymus abnormality

lack of T cells (CD3+)

Question 18

deficiency of JAK3

Answer 18

autosomal recessive
defect in IL-2R signaling
T-, B+, NK-