SCID case studies

Question 1

In T- B+ NK- (ychain/JAK3) why might you have low immunoglobulin?

Answer 1

If they are very young, will wane once maternal Ig dissapears.

Question 2

which SCIDs are specific for T cells?

Answer 2

T- B+ NK+, IL-7Ra/ CD3zet/ ZAP70 and corninin-1A

Question 3

Ifyou have a T cells appraocing 300 t cell per ul then you might suspect Omenns or maternal engraftment. What could differentiate?

Answer 3

IgE levels and eosinophilia and X-Y FISH/ STR.

Question 4

What kind of disribuiton ofr each VB is seen in normal and OMens STR?

Answer 4

normal guassian distribuiton for all types

non gausiian for limited types.

Question 5

What kind of bridging therapy can you use forSCID before transplant?

Answer 5

antimicrobial prophylaxis, avoid live vaccines, Ig replacement therapy.
Or ADA deanimase administration.

Question 6

Why might you suspend breastfeeding if SCID is suscpeced?

Answer 6

because mother may pass on CMV infection.

Question 7

Why might be importatnt to consider what kind of T- B- SCID it is?

Answer 7

Bceuase if ARTemis DNA Pkcs DNA ligase IV or cernunnnos then they will be radiosensitive
avoid imaging and chemotherapeutic agents.

Question 8

What SCID won’t HSCT work for?

Answer 8

defects extrinsic to the HSC system- e.g. athmic defects.