50
Classification of PPID
Transporters of antigenic peptides 1 and 2 TAP1/TAP2
TAP binding protein (tapasin) TAPBP
MHC class II deficiency
CIITA MHC2TA
RFX5 RFX5
RFXAP RFXAP
RFXANK RFXANK
Winged helix deficiency (nude) FOXN1
STAT5b STAT5B
Cytidine triphosphate synthase 1 CTPS1
HIMs
TNF superfamily member 5 (CD40L) TNFSF5
TNF receptor superfamily member 5 (CD40) TNFRSF5
RhoH deficiency RHOH
MST1 deficiency STK4
TCRα deficiency TRAC
Lck deficiency LCK
MALT1 deficiency MALT1
IL-21R deficiency IL21R
CARD11 deficiency CARD11
OX40 deficiency OX40
IKBKB deficiency IKBKB
Syndromes with immunodeficiency
Congenital thrombocytopenias
WAS WAS
WAS protein–interacting protein (WIP) deficiency WIPF1
Non-SCID DNA repair defects
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
