immune 2 SCIDs

Question 1

SCID with B cells only

Answer 1

IL2RG and Jak3

Question 2

SCID with B cells only, 50-60% of SCIS, CD132 deficiency, no thymus, X-oink

Answer 2

IL2RG

Question 3

SCID with B cells only, CD132+, AR

Answer 3

Jak3

Question 4

SCID with B and NK cells- 4 genes

Answer 4

IL7R, CD3E, PTPRC, coro1A

Question 5

SCID with B and NK cells, normal thymus

Answer 5

coronin-1A deficiency

Question 6

SCID with B and NK cells, 5% of scids, AR, absent thymus

Answer 6

IL7Ralpha

Question 7

SCID with B and NK cells, no gamma/delta T cells

Answer 7

CD3epsilon

Question 8

SCID with NK cells 2 types

Answer 8

Cernunnos/XLF deficiency (NHEJ1) and Artermist/DCLRE1C deficiency

Question 9

SCID with NK cells with microcephaly, facial dysmorphism (bird like face), radiation sensitivity

Answer 9

Cernunnos/XLF deficicency (NHEJ1)

Question 10

SCID with NK cells with no microcephaly, still have radiation sensitivity

Answer 10

Artemis/DCLRE1C deficiency

Question 11

SCID with no T B or NK cells 0 3 types

Answer 11

ADA deficiency, activated Rac2 defect, reticular dysgenesis

Question 12

causes 20% of SCIDS, no T, B, NK cells, AR, deafness, rosary rib

Answer 12

ADA deficiency

Question 13

no T, B, NK cells, severe neutropenia, sensorianeural deafness

Answer 13

reticular dysgenesis

Question 14

no T, B, NK cells, defective hematopoietic energy metabolism

Answer 14

activated Rac2 defect