Agammaglobulinemia

Question 1

What is this condition?

Answer 1

it prevents pre-B cells from developing into plasma secreting cells

Question 2

What are some possible mutations for this condition?

Answer 2

BLNK mutations (linker proteins that permit BCR signaling) , BTK, IgA, IgG, IgM

Question 3

What Ig problems do we expect for this conditions?

Answer 3

low/nonexistent IgG, IgM, IgA

Question 4

X-linked agammaglobulinemia =

Answer 4

BTK mutations
effects boys
diagnosed 5/6 months
defect in rearrangement of Ig heavy chain
arrested at Pre-B—> immature B cell stage

Question 5

What organs in the body would be impacted, and how would these manifest clinically?

Answer 5

poorly present or absent:

spleen, tonsils, adenoids, peyer patches, peripheral lymph nodes

Question 6

Autosomal x linked agammaglobulinemia =

Answer 6

mutations in:

BLNK, Ig-alpha, Ig-M, lambda-5 light chain

low absent IgA, M, G

Question 7

What mutation ISNT autosomal x linked agammaglobulinemia associated with?

Answer 7

Btk