Test | Genes | Patients | Carriers? | Index patients tested positiveb | % tested positive |
---|---|---|---|---|---|
aHUS/C3 glomerulopathy | CD46 | 15 | Â | 1 | 7 |
CFH | Â | 1 | 7 | ||
CFI | Â | 0 | 0 | ||
ALPS | CD95 | 7 | Â | 0 | 0 |
APECED | AIRE | 1 | Â | 0 | 0 |
CGD-AR | NCF1 | 8 | 4 | 4 | 50 |
CGD-XL | CYBB | 3 | 1 | 3 | 100 |
CHARGE | CHD7 | 1 | Â | 0 | 0 |
C2 deficiency | C2 | 1 | Â | 0 | 0 |
CAPS | NLRP3/CIAS1 | 9 | 2 | 3 | 33 |
DOCK8 deficiency | DOCK8 | 1 | Â | 0 | 0 |
EDA-ID | NEMO | 1 | Â | 1 | 100 |
Griscelli type 2 | RAB27A | 3 | Â | 3 | 100 |
HAE | SERPING1 | 13 | 3 | 6 | 46 |
HAE type IIIa | Â | 17 | Â | 0 | 0 |
HLH | Perforin | 20 | Â | 1 | 5 |
UNC13D | Â | 1 | 5 | ||
STXBP2 | Â | 0 | 0 | ||
STX11 | Â | 0 | 0 | ||
HIM-XL | CD40L | 12 | 2 | 3 | 25 |
HIM | AICDA | 4 | Â | 0 | 0 |
UNG | Â | 0 | Â | ||
AUG | Â | 0 | Â | ||
CD40 | Â | 0 | Â | ||
Hyper IgE | STAT3 | 9 | Â | 4 | 44 |
IPEX | FoxP3 | 1 | Â | 0 | 0 |
LPD-AR (EBV driven) | ITK | 1 | Â | 0 | 0 |
LPD-XL (XLP) | SH2D1A | 32 | 9 | 1 | 3 |
BIRC4 | Â | 1 | 3 | ||
Netherton syndrome | SPINK5 | 1 | Â | 0 | 0 |
Periodic fever syndrome | MEFV | 11 | Â | 2 | 18 |
MVK | Â | 0 | 0 | ||
Properdin deficiency | properdin | 1 | Â | 0 | 0 |
SCID-AR | JAK3 | 2 | 2 | 1 | 11 |
RAG1 & 2 | 3 | Â | 0 | 0 | |
ADA | 0 | Â | 0 | 0 | |
LIG4 | 1 | Â | 0 | 0 | |
Artemis | 1 | Â | 0 | 0 | |
Cern. Factorc | 1 | Â | 0 | 0 | |
IL-7R | 1 | Â | 0 | 0 | |
SCID-XL | IL2-RG | 4 | 1 | 2 | 50 |
SDS | SBDS | 1 | 2 | 1 | 100 |
TRAPS | TNFRSF1A | 19 | Â | 2 | 11 |
UNC93b deficiency | UNC93b | 1 | Â | 0 | 0 |
WAS | WASP | 10 | Â | 5 | 50 |
WHIM syndrome | CXCR4 | 1 | Â | 0 | 0 |
XLA | BTK | 11 | 4 | 8 | 73 |
Total | Â | 228 | 30 | 53 | 23 |