Table 1.
T- and B-cell immunodeficiencies in which TRECs and KRECs have been evaluated
| Disease | Genetic defect | TRECs | KRECs | Author |
|---|---|---|---|---|
| SCID |
ADA |
↓ |
nd |
Roifman [31]; Gerstel-Thompson [32]; Morinishi [33] |
| |
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 |
↓ |
↑ |
Morinishi [33]; Borte [34]; Chan and Puck [35]; Hale [36] |
| |
LIG4 |
↓ |
nd |
Roifman [31]; Morinishi [33] |
| |
PNP |
↓ |
nd |
Gerstel-Thompson [32] |
| |
RAG1 |
↓ |
↓ |
Sottini [26]; Roifman [31]; Morinishi [33]; Borte [34] |
| |
RAG2 |
↓ |
nd |
Roifman [31]; Morinishi [33] |
| |
RMRP |
↓ |
nd |
Roifman [31] |
| |
ZAP70 |
↓ |
nd |
Roifman [31] |
| |
IL7RA |
↓ |
↑ |
Borte [34] |
| |
unclassified |
↓ |
↓ |
Roifman [31]; Borte [34] |
| |
CD40LG |
↑ |
↑ |
Sottini [26]; Roifman [31]; Borte [34] |
| |
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 |
Routes [37]; Lima [38] |
| NBS |
NBN |
↑ |
↓ |
Borte [34]; van der Burg [39] |
| XLA |
BTK |
↑ |
↓ |
Borte [34]; Nakagawa [40] |
| non-XLA |
|
nd |
↑ |
Nakagawa [40] |
| AT |
ATM |
borderline |
↓ |
Borte [34] |
| WAS |
WAS |
↓ |
↓ |
Sottini [26] |
| CVID (adults) |
|
↓ |
↓ |
Serana [41] |
| CVID (newborn) |
|
↑ |
↑ |
Borte [34]; Kamae [42] |
| IgAD | ↑ | ↑ | Borte [34] |
ADA: adenosine deaminase; AK2: adenylate kinase 2; AT: ataxia-telangectasia; ATM: AT mutated; BTK: Bruton agammaglobulinemia tyrosine kinase; CD3G: CD3g molecule, gamma (CD3-TCR complex); CD40LG: CD40 ligand; CD8A: CD8A molecule; CVID: common variable immunodeficiency; DGS: DiGeorge syndrome; FOXP3: forkhead box P3; IgAD: IgA deficiency; IL10RA: interleukin 10 receptor, alpha; IL2RA: interleukin 2 receptor, alpha; IL2RG: interleukin 2 receptor, gamma; IL7RA: interleukin 7 receptor, alpha; JAK3: Janus kinase 3; KRECs: k-deleting recombination excision circles; LIG4: ligase IV, DNA, ATP-dependent; NBN: nibrin; NBS: Nijmegen breakage syndrome; nd: not done; PNP: purine nucleoside phosphorylase; RAG1: recombination activating gene 1; RAG2: recombination activating gene 2; RMRP: RNA component of mitochondrial RNA processing endoribonuclease; SCID: severe combined immunodeficiency; TRECs: T-cell receptor excision circle; WAS: Wiskott-Aldrich syndrome; XLA: X-linked agammaglobulinemia; ZAP70: zeta-chain (TCR) associated protein kinase 70kDa.
↑: over the cut-off; ↓: lower than the cut-off or undetectable.