SCIDs

Question 1

What is the most common mutation causing SCID?

Answer 1

50% are due to IL-2R gamma mutation.

Question 2

How is classic SCID treated?

Answer 2

BMT

Question 3

Two SCID syndromes are x-linked. Which are they?

Answer 3

X-Linked SCID

Wiskott-Aldrich

Question 4

Which cell lines are down in adenosine deaminase deficiency?

Answer 4

T, B, and NK because of toxic metabolites.

Question 5

Enzyme replacement is on optional temporizing treatment for which type of SCID?

Answer 5

Adenosine deaminase deficiency.

Question 6

Wiskott-Aldrich has the same inheritance pattern as which other SCID type?

Answer 6

X-Linked SCID

Question 7

Which SCID features bird-like facies?

Answer 7

Nijmegen Breakage Syndrome

Question 8

Two SCID syndromes involve defective DNA repair. Which are they?

Answer 8

Bloom Syndrome (DNA ligase 1 mutation) causing chromosomal instability.

Nijmegen Breakage Syndrome (NBS 1 mutation) causing broken dsDNA repair.

Question 9

Two SCID subtypes feature telangiectasia. Which are they?

Answer 9

Bloom syndrome

Ataxia Telangiectasia

Question 10

True or False: The inheritance patterns of the 5 SCID syndromes are either x-linked or AD.

Answer 10

FALSE. They are either x-linked or AR. X-Linked SCID and Wiscott-Aldrich are x-linked while Bloom, Ataxia-Telangiectasia, and Nijmegen are all AR.

Question 11

Which SCID syndrome features elevated alpha-fetoprotein?

Answer 11

Ataxia-Telangiectasia