Table 5.
Results of TREC and KREC levels in patients with primary immunodeficiency diseases.
| Patient | Age | Diagnosis | Genetic diagnosis | TREC (copies/μL) | TREC (copies/106 cells) | KREC (copies/μL) | KREC (copies/106 cells) | Lymphocytes subset (cells/μL) | IgG/A/M (mg/dL) |
|---|---|---|---|---|---|---|---|---|---|
| P1 | <1 y | SCID | RAG1 (c.322C>T & c.2095C>T) | < LOD L | < LOD L | 1 L | 2,101 L | CD3: 1,474, CD4: 531,CD8: 962; CD19: 226 | IgG: 1,990,IgA: 33, IgM: 374 |
| P2 | <1 y | SCID; DLBCL | IL7RA (c.221+2T>A & c.361dupA) | < LOD L | < LOD L | 2 L | 3,946 L | CD3: 81, CD4: 7,CD8: 66; CD19: 700 | IgG: 1,008,IgA:123, IgM: 181 |
| P3 | <1 y | X-SCID | IL2RG (c.694G>C) | < LOD L | < LOD L | 136 | 187,993 | CD3: 292, CD4: 31,CD8: 141, CD19: 910 | IgG: 755,IgA: <7, IgM: 11 |
| P4 | <1 y | X-SCID | IL2RG (c.996C>T) | < LOD L | < LOD L | 142 | 61,424 L | Not available | Not available |
| P5 | <1 y | X-SCID | IL2RG (c.723T>G) | < LOD L | < LOD L | 43 L | 26,158 L | CD3: 175, CD4: 33,CD8: 136; CD19: 240 | IgG: 326,IgA: <7, IgM: <5 |
| P6 | <1 y | DiGeorge Syndrome | 22q11.21 deletion | 58 L | 33,296 L | 138 | 79,781 L | CD3: 1,850, CD4: 1,200,CD8: 537; CD19: 892 | IgG: 761,IgA: <10, IgM: <20 |
| P7 | 5–8 y | APDS | PIK3CD (c.3061G>A) | 37 L | 51,175 L | 14 L | 19,414 L | CD3: 1,594, CD4: 831,CD8: 706; CD19: 98 | IgG: 2,658,IgA: 77, IgM: 914 |
| P8 | 1–4 y | XLA | BTK (c.1723G>C) | 141 | 61,379 L | < LOD L | < LOD L | CD3: 2,212, CD4: 1,241,CD8: 674; CD19: 15 | IgG: 336,IgA: <7, IgM: 18 |
| P9 | 13–18 y | XLA | BTK (c.1535T>C) | 87 | 76,075 | 1 L | 791 L | CD3: 2,399, CD4: 927,CD8: 1,381; CD19: 8 | IgG: <75,IgA: <10, IgM: 20 |
| P10 | <1 y | Agamma-globulinemia | Unknown | 295 | 88,500 L | < LOD L | < LOD L | CD3: 7,845, CD4: 3,437,CD8: 5,116; CD19: 13 | IgG: 726,IgA: <7, IgM: 27 |
| P11 | 13–18 y | GATA2 deficiency; Monosomy 7 | GATA2 (c.726_729del) | 52 | 74,876 | < LOD L | < LOD L | CD3: 1,169, CD4: 525,CD8: 599; CD19: 33 | IgG: 766,IgA: 58, IgM: 106 |
| P12 | 5–8 y | HIGM | CD40LG (c.761G>T) | 175 | 83,734 | 109 | 51,992 | CD3: 3,560, CD4: 1,995,CD8: 957; CD19: 767 | IgG: 298,IgA: 61, IgM: 185 |
SCID, Severe Combined Immunodeficiency; DLBCL, Diffuse large B-cell lymphoma; X-SCID, X-linked SCID; XLA, X-linked Agammaglobulinemia; APDS, Activated PI3K-Delta Syndrome (APDS); HIGM, X-linked immunodeficiency with hyper-IgM syndrome; LOD, Limit of Detection; L, Below reference interval.