Disease | Genetic defect | TRECs | KRECs | Author |
---|---|---|---|---|
SCID | ADA | ↓ | nd | |
 | AK2 | ↓ | ↓ | Borte [34] |
 | CD3G | ↓ | nd | Roifman [31] |
 | CD8A | ↓ | ↓ | Sottini [26] |
 | IL2RA | ↓ | nd | Roifman [31] |
 | IL2RG | ↓ | ↑ | Roifman [31]; Morinishi [33]; Borte [34]; Chan and Puck [35] |
 | JAK3 | ↓ | ↑ | |
 | LIG4 | ↓ | nd | |
 | PNP | ↓ | nd | Gerstel-Thompson [32] |
 | RAG1 | ↓ | ↓ | |
 | RAG2 | ↓ | nd | |
 | RMRP | ↓ | nd | Roifman [31] |
 | ZAP70 | ↓ | nd | Roifman [31] |
 | IL7RA | ↓ | ↑ | Borte [34] |
 | unclassified | ↓ | ↓ | |
 | CD40LG | ↑ | ↑ | |
 | FOXP3 | ↑ | nd | Roifman [31] |
 | IL10RA | ↑ | nd | Roifman [31] |
 | IL2RG (p.R222C mutation) | ↑ | nd | Roifman [31] |
 | partial ADA | ↑ | nd | Roifman [31] |
DGS | 22q11.2 deletion | ↓ | nd | |
NBS | NBN | ↑ | ↓ | |
XLA | BTK | ↑ | ↓ | |
non-XLA |  | nd | ↑ | Nakagawa [40] |
AT | ATM | borderline | ↓ | Borte [34] |
WAS | WAS | ↓ | ↓ | Sottini [26] |
CVID (adults) |  | ↓ | ↓ | Serana [41] |
CVID (newborn) |  | ↑ | ↑ | |
IgAD |  | ↑ | ↑ | Borte [34] |