Table 1.
Table 1. Positive controls with known primary immunodeficiency diseases
| Age (y)/Sex | Clinical/ Genetic Diagnosis | The number of copies/DBS | ||
|---|---|---|---|---|
| ACTB | TRECs | KRECs | ||
| 14/M | Agammaglobulinemia | 3.772 | 6 | 5 |
| No mutation in 200 gene | ||||
| 30/M | TACI Deficiency | 2.480 | 27 | 4 |
| 18/M | X-linked Agammaglobulinemia (Homozygous BTK) | 6.201 | 21 | 1 |
| <1/M | SCID, IL2RG mutation | 4.470 | 1 | 248 |
M: male; TACI: The transmembrane activator and calcium-modulating cyclophilin ligand interactor; BTK: Bruton tyrosine kinase; SCID: Severe combined immunodeficiency; ACTB: Actin-beta; TREC: Tcell receptor excision circles; KRECs: κ-deleting recombination excision circles; DBS: dried blood spot; y: year; IL2RG: Interleukin 2 Receptor Subunit Gamma.