X-Linked SCID/Autosomal SCID

Question 1

Mutations for Autosomal SCID

Answer 1

1.) ADA or PNP mutations
Toxic metabolites build up
–>Especially toxic for T cells

2. ) JAK3
3. ) RAG1 or RAG3 mutations

Question 2

Which cells are lacking if you’re completely lacking RAG1?

Answer 2

T cells and B cells.

require RAG1 to express TCR and BCR

Question 3

What is the common clinical manifestion of Omenn Syndrome?

Answer 3

Autoimmunity

Question 4

What is the mutation associated with Omenn Syndrome?

Answer 4

Mutation in RAG1 but still some production of it.

Question 5

Where is newborn screening for SCID?

Answer 5

Most states including Kansas.

Question 6

What labs are associated with newborn screening for SCID?

Answer 6

Measure the TRECs via TREC assay

Question 7

What are the lab values for X-linked SCID

Answer 7

significantly low T’s, normal B’s but Antibody’s still impaired because of the lack of communication from low T cells.