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Flashcards in SCIDs Deck (11):
1

What is the most common mutation causing SCID?

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

2

How is classic SCID treated?

BMT

3

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

X-Linked SCID
Wiskott-Aldrich

4

Which cell lines are down in adenosine deaminase deficiency?

T, B, and NK because of toxic metabolites.

5

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

Adenosine deaminase deficiency.

6

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

X-Linked SCID

7

Which SCID features bird-like facies?

Nijmegen Breakage Syndrome

8

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

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

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

9

Two SCID subtypes feature telangiectasia. Which are they?

Bloom syndrome
Ataxia Telangiectasia

10

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

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.

11

Which SCID syndrome features elevated alpha-fetoprotein?

Ataxia-Telangiectasia