Immune Deficiencies

Question 1

MAC deficiency

Answer 1

Risk for meningitis
Treat with vaccinations
CH50, AP50 = zero

Question 2

Properdin deficiency

Answer 2

Risk for meningitis
Treat with vaccinations
normal CH50, decreased AP50
low C3b

Question 3

Paroxysmal nocturnal hemoglobinuria (PNH)

Answer 3

RBC lysed - dark morning urine, MAC not inhibited, decreased CD55&CD59
Anti-C5 - allows MAC to be inhibited
Cure with bone marrow transplant

Question 4

Hereditary angioneurotic edema (HAE)

Answer 4

deficiency in C1INH
Edema attacks
Decreased CH50
C1INH recombinant
Mediated by kalikrein, kininogen, bradykinin

Question 5

SLE

Answer 5

Alternative pathway always activated, immune complex deposits
C3b decreased
Decreased CH50, AP50

Question 6

Atypical hemolytic urine syndrome (aHUS)

Answer 6

Nondiarrhea
Mutation in factor H
Decreased CH50, AP50
Decreased C3
Treat with anti-C5

Question 7

Omen syndrome

Answer 7

Partial RAG deletion

Question 8

SCID

Answer 8

Full RAG deletion, no T or B cells

Question 9

Hyper IgM Syndrome

Answer 9

Mutation in AID

Question 10

Agammaglobulinemia/Bruton’s syndrome

Answer 10

Mutation in BTK, no B cells formed

Question 11

Mutation in TdT

Answer 11

Reduced diversity of immune cells
TdT usually add nucleotides after VDJ recombination

Question 12

C6 deficiency

Answer 12

Suspecitble to Neisseria bacteremia