Immunodeficiency

Question 1

Btk deficiency results in what?

Answer 1

x-linked agammaglobulinemia, aka Bruton’s disease

Question 2

Btk deficiency affects which steps of B cell maturation?

Answer 2

Pro b cell -> pre-b cell -> immature B cell

Question 3

Class II MHC deficiency (bare lymphocyte syndrome type 2) and TAP-1/2 deficiencies affect which step of T cell maturation?

Answer 3

double positive -> single positive (immature) T cell

Question 4

What deficiencies are associated with SCID?

Answer 4

ADA, PNP, or RAG

Question 5

This type of immunodeficiency results from accumulation of metabolites deoxyATP and deoxyadenosine in immature lymphocytes, which inhibit ribonucleotide reductase activity thus inhibiting DNA synthesis

Answer 5

SCID with ADA deficiency

Question 6

X-linked SCID results from what deficiency?

Answer 6

gamma-c

Question 7

What step of T cell maturation does X-linked SCID affect?

Answer 7

pro-T -> pre-T cell