Immunodeficiency Flashcards
1
Q
T-B+ SCID AR
A
JAK3, IL7R
2
Q
T-B+ SCID XL
A
IL2RG
3
Q
T-B- SCID, NK+
A
RAG1/2 or Artemis (DCLRE1C)
4
Q
T-B- SCID, NK-
A
ADA deficiency
5
Q
Wiskott-Aldrich Syndrome mutation
A
WAS protein (WAS gene)
6
Q
X-linked lymphoproliferative disease mutation
A
SAP gene; get fulminant acute mono from EBV