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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.