Flashcards in SCIDs Deck (11)
What is the most common mutation causing SCID?
50% are due to IL-2R gamma mutation.
How is classic SCID treated?
Two SCID syndromes are x-linked. Which are they?
Which cell lines are down in adenosine deaminase deficiency?
T, B, and NK because of toxic metabolites.
Enzyme replacement is on optional temporizing treatment for which type of SCID?
Adenosine deaminase deficiency.
Wiskott-Aldrich has the same inheritance pattern as which other SCID type?
Which SCID features bird-like facies?
Nijmegen Breakage Syndrome
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.
Two SCID subtypes feature telangiectasia. Which are they?
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.