57
AGS2, RNASEH2B deficiency RNASEH2B
AGS3, RNASEH2C deficiency RNASEH2C
AGS4, RNASEH2A deficiency RNASEH2A
AGS5, SAMHD1 deficiency SAMHD1
AGS6, ADAR1 deficiency ADAR1
SPENCD ACP5
WHIM syndrome, chemokine (C-X-C motif )
receptor 4 defect
CXCR4
EV TMC6, TMC8
HSE
Unc-93 homolog B1 (C. elegans) defect UNC93B1
TANK-binding kinase 1 TBK1
TLR adaptor molecule 1 TICAM1
TLR 3 defect TLR3
TNF receptor–associated factor 3 defect TRAF3
CMCC
Caspase recruitment domain family, member 9 defect CARD9
C-type lectin domain family 7, member A defect CLEC7A
IL-17 receptor α chain defect IL17RA
IL-17F defect IL17F
STAT1 gain of function STAT1
ACT1 deficiency ACT1
Susceptibility to trypanosomiasis APOL1
CD16 defect CD16
ICA RPSA
Autoinflammatory disorders
CAPS
FMF MEFV
MVK deficiency (hyper-IgD syndrome) MVK
MWS NLRP3
CINCA syndrome or NOMID
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
