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Table 1 T- and B-cell immunodeficiencies in which TRECs and KRECs have been evaluated

From: Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies

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]

  1. 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.
  2. ↑: over the cut-off; ↓: lower than the cut-off or undetectable.