Immunodeficiency Chart

Question 1

defect in XSCIDS

Answer 1

CD132 mutation

Question 2

manifestation of XSCIDs

Answer 2

failure to thrive and recurrent and persistent infection (bacterial, fungal, viral)

Question 3

mechanism of pathology for XSCIDs

Answer 3

lack of signaling via receptors IL-2,4,7,9,15,21

Question 4

other name for XSCIDs

Answer 4

common gamma chain (gc), IL-2RG, IL-2R gamma chain

Question 5

treatment of XSCIDs

Answer 5

bone marrow transplant, IVIG, gene therapy

Question 6

defect in SCIDS ADA

Answer 6

adenosine deaminase deficiency (ADA)

Question 7

manifestation of SCIDS ADA

Answer 7

failure to thrive, early onset of infections mainly of the respiratory, gut, and tract

Question 8

mechanism of pathology of ADA

Answer 8

increase in dATP and deoxyadenosine which is toxic to B and T cells

Question 9

what does ADA do to deoxyadenosine

Answer 9

it converts deoxyadenosine to deoxyinosine

Question 10

treatment of SCIDS ADA

Answer 10

Peg ADA, bone marrow transplant, gene therapy, IVIG

Question 11

defect in SCIDS Jak3

Answer 11

Jak3

Question 12

manifestation of SCIDS Jak3

Answer 12

same as that in CD132 mutation - failure to thrive and recurrent and persistent infections (viral, fungal, bacterial)

Question 13

mechanism of pathology of SCIDS Jak3

Answer 13

lack of signaling via receptors IL-2,4,7,9,15,21

Question 14

IL-2,4,7,9,15,21 all receive signaling via

Answer 14

Jak3

Question 15

treatment of SCIDS Jak3

Answer 15

bone marrow transplant, IVIG