B3.070 Rash and Diarrhea

Question 1

10 warning signs of primary immunodeficiency

Answer 1

1. 4 or more new ear infections within 1 year
2. 2 or more serious sinus infections within 1 year
3. 2 or more months on antibiotics with little effect
4. 2 or more pneumonias within 1 year
5. failure of an infant to gain weight or grow normally
6. recurrent, deep skin or organ abscessed
7. persistent thrush in mouth or fungal infection on skin
8. need for IV antibiotics to clear infections
9. 2 or more deep seated infections including septicemia
10. a family history of PI

Question 2

features of Wiskott Aldrich

Answer 2

1/100,000 people
X-linked
defect in Wiskott Aldrich syndrome protein- signal protein
-poor NK cytotoxicity
-T-cell migration difficulty

Question 3

complications of Wiskott Aldrich

Answer 3

autoimmune disease (25-70%)
-renal disease
-large and small vessel vasculitis 
-cytopenias including ITP
inflammatory bowl disease
malignancy
viral, bacterial, and fungal infections

Question 4

supportive care for Wiskott Aldrich

Answer 4

<4 yo, trimethoprim sulfamethoxazole
acyclovir with recurrent HSV
platelet transfusion for life-threatening bleeding
irradiated blood products

Question 5

treatment of cytopenias in Wiskott Aldrich

Answer 5

IVIg infusion
Rituximab
splenectomy (increases sepsis risk)

Question 6

curative therapy for Wiskott Aldrich

Answer 6

hematopoietic cell transplant

Question 7

criteria for BMT

Answer 7

life threatening disease complications

eligible, known gene mutation in hematopoietic stem cells

Question 8

3 primary steps in BMT

Answer 8

1. donor selection
2. recipient pre-transplant conditioning
3. appropriate immunosuppression
   - GVHD against engraftment

Question 9

4 types of BMT donors

Answer 9

matched related (MRD)
matched unrelated (MURD)
cord blood (CBD)
mismatched related donor (MMRD)

Question 10

describe BMT conditioning

Answer 10

1. stem cell graft
   - Ab tagged removal
   - radiation
2. recipient bone marrow
   - myeloablation: facilitates engraftment
   - immunosuppression: limit rejection
   - total body irradiation does both

sometimes you don’t have to do this with SCID because you already have poor immune cell function

Question 11

what is chimerism

Answer 11

engraftment of donor cells
exclusively donor genotype- complete chimerism
mixed
exclusively recipient genotype- graft failute

Question 12

graft vs host disease pathogenesis

Answer 12

donor immune cells recognize recipient cells as foreign and attack
acute <100 days, chronic >100 days
liver, GI tract, skin, other tissues

Question 13

risks for GVHD

Answer 13

high HLA mismatch
intensity of conditioning regimen
post transplant immunosuppression