Table 3.
Results of TREC and KREC testing of patients with confirmed IEI
| IEI type* | Patient | Gender | Age of testing | Diagnosis | Material tested | TREC copies/µl | KREC copies/µl |
|---|---|---|---|---|---|---|---|
| Immunodeficiencies affecting cellular and humoral immunity | |||||||
| P1 | F | 2 d | SCID-AR | DBS at birth | 0 | 0 | |
| P1 | 7 y | DBS-PB | 12 | 4 | |||
| P2 | M | 2 d | SCID-AR | DBS-at birth | 0 | 0 | |
| P3 | 2 d | MHC class II deficiency | DBS at birth | 24 | 13 | ||
| CID with associated or syndromic features | |||||||
| P4 | M | 1 y | 22q11 deletion syndrome | DBS-PB | 35 | 79 | |
| P5 | M | 4 y | 22q11 deletion syndrome | DBS-PB | 35 | 127 | |
| P6 | M | 2 d | 22q11 deletion syndrome | DBS at birth | 106 | 123 | |
| P6 | M | 2 y | 22q11 deletion syndrome | DBS-PB | 53 | 148 | |
| P7 | M | 2 d | 22q11 deletion syndrome | DBS at birth | 11 | 13 | |
| P8 | F | 13 y | Hyper IgE syndrome | DBS-PB | 245 | 93 | |
| P9 | F | 2 d | Nijmegen breakage syndrome | DBS at birth | 11 | 0 | |
| P9 | 4 y | DBS-PB | 13 | 2 | |||
| P10 | F | 26 y | Ataxia telangiectasia | DBS-PB | 0 | 3 | |
| Predominantly antibody deficiencies | |||||||
| P11 | M | 8 y | X-linked agammaglobulinemia | DBS at birth | 46 | 0 | |
| P12 | M | 52 y | CVID | DBS-PB | 28 | 13 | |
| P13 | F | 40 y | CVID | DBS-PB | 12 | 0 | |
| P14 | F | 56 y | CVID | DBS-PB | 9 | 0 | |
| P15 | F | 40 y | CVID | DBS-PB | 2 | 4 | |
| P16 | M | 50 y | CVID | DBS-PB | 4 | 0 | |
| P17 | M | 16 y | CVID | DBS-PB | 75 | 11 | |
| P18 | M | 68 y | CVID | DBS-PB | 3 | 4 | |
| P19 | M | 63 y | CVID | DBS-PB | 17 | 9 | |
| P20 | M | 30 y | CVID | DBS-PB | 83 | 0 | |
| P21 | F | 54 y | CVID | DBS-PB | 45 | 12 | |
| P22 | M | 49 y | CVID | DBS-PB | 1 | 22 | |
| P23 | F | 29 y | CVID | DBS-PB | 22 | 71 | |
| P24 | M | 42 y | CVID | DBS-PB | 6 | 57 | |
| P25 | M | 49 y | CVID | DBS-PB | 1 | 115 | |
| P26 | M | 7 y | Transient hypogammaglobulinemia of infancy | DBS at birth | 221 | 126 | |
| Auto-inflammatory disorders | |||||||
| P27 | M | 3 y | STING-associated vasculopathy, infantile-onset | DBS-PB | 31 | 116 | |
| P28 | F | 13 y | FMF | DBS-PB | 115 | NT | |
| P29 | M | 3 y | PFAPA syndrome | 174 | 73 | ||
| Complement deficiencies | |||||||
| P30 | M | 7 y | C3 deficiency | DBS-PB | 70 | NT | |
| P31 | F | 46 y | MBL deficiency | DBS-PB | 25 | 34 | |
| Diseases of immune dysregulation | |||||||
| P32 | M | 8 y | X-linked lymphoproliferative syndrome | DBS-PB | 128 | 38 | |
| Congenital defects of phagocyte | |||||||
| P33 | M | 2 d | CGD | DBS at birth | 84 | 111 | |
| P34 | M | 5 y | G6PD deficiency | DBS-PB | 230 | 76 | |
According to 2019 International Union of Immunological Societies Phenotypical Classification [4]
DBS (dried blood spots) at birth – blood for the test was taken after the forty-eighth hour (second day) and before the ninety-sixth hour (fourth day) for newborns with weight at birth ≥ 2,000 g and on the fourth day of the child’s life, at the end of the second week or in case of earlier discharge – on the day of discharge for newborns with weight at birth ≤ 2,000 g; DBS at birth were tested retrospectively. DBS-PB – dried blood spots prepared from peripheral blood taken at the time of testing and corresponding to the patient’s age individually presented in the table; SCID – severe combined immune deficiency; AR – autosomal recessive; MHC – major histocompatibility complex; CVID – common variable immunodeficiency; FMF – familial Mediterranean fever; PFAPA – periodic fever, aphthous stomatitis, pharyngitis, adenitis; CGD – chronic granulomatous disease; G6PD – glucose-6-phosphate dehydrogenase; NT – not tested.