Table 3.
Signature Peptide Concentrations in 15 Blinded PBMC Samples from PIDD Patients
| Sampleb | Normalized to Actina | |||
|---|---|---|---|---|
| BTK 526 | WASP 274 | CD3ε 197 | Gene (Mutation) | |
| SCID1 | 1.4 | 0.5 | ND | IL2RG p.L293Q |
| SCID2 | 2.0 | 0.3 | ND | IL2RG p.R285Q |
| SCID3 | 1.6 | 0.3 | ND | RAG1 p.delM661 |
| SCID4 | 4.4 | 1.0 | ND | IL2RG p.E110X |
| SCID5 | ND | 0.3 | 4.4 | IL2RG p.R224W |
| WAS1 | 2.6 | ND | 2.1 | WASP c.del-719_273 |
| WAS2 | 1.2 | ND | 0.8 | WASP p.D485N |
| WAS3 | 1.8 | ND | ND | WASP c.471_476insA |
| WAS4 | ND | ND | ND | WASP c.471_476insA |
| XLA1 | ND | 5.0 | 3.3 | BTK p.R520X |
| XLA2 | ND | 3.1 | 2.4 | BTK p.R520X |
| XLA3 | ND | 3.4 | 4.8 | BTK p.E589G |
| XLA4 | ND | 1.1 | 1.9 | BTK p.R525X |
| XLA5 | ND | 0.8 | 3.5 | BTK c.974+4A>G |
| XLA6 | ND | 0.6 | 3.4 | BTK p.W251X |
| Control Samplesc | ||||
| < 1 year old (24 samples) | 0.47 ± 0.3 | 0.29 ± 0.1 | 0.12 ± 0.1 | |
| 1–5 years old (5 samples) | 0.53 ± 0.4 | 0.57 ± 0.7 | 0.35 ± 0.2 | |
| > 5 years old (16 samples) | 0.37 ± 0.3 | 0.31 ± 0.2 | 0.18 ± 0.2 | |
|
Precision (% C.V.)
| ||||
| Inter-assay (3) | 21.0% | 20.3% | 14.1% | |
| Intra-assay (10) | 19.6% | 18.1% | 24.3% | |
a
Relative ratio to isotopically labeled internal standards normalized to actin concentration,
b
PBMC samples,
c
Control ranges established using proteolytically digested WBC