Table 1.
Characteristics of the study participants
| Subject-ID | TREC on NBS (copies/μl) | Age at follow-up (yrs) | Gender | Heart defect | Thymus appearance at surgery | Other malformations and deformities | Hypocalcemia | Neuro-developmental disorder | Significant infections | Autoimmunity | Allergy and asthma | Deviation from vaccination schedule [30] | CMV-IgG EBV-IgG |
| 22q11Low individuals | |||||||||||||
| 1 | 1 | 20 | F |
ASD VSD |
Non-visible |
Cleft palate Umbilical hernia |
Prolonged |
RSV# Prolonged viral Recurrent OM |
Thyrotoxicosis with TSHR-Abs | MMR given at age 10 yrs |
CMV+ EBV+ |
||
| 2 | 2 | 18 | F |
IAA VSD |
Non-visible | Neonatal | ID |
VZV# Prolonged viral Candida |
No live vaccines given |
CMV+ EBV+ |
|||
| 3 | 5 | 12 | M |
ASD PA |
* | VFI |
ADD ID |
Prolonged viral | Milk protein allergy |
CMV+ EBV+ |
|||
| 4 | 5 | 23 | F |
IAA ASD VSD |
Non-visible | ID |
Prolonged viral Recurrent OM Recurrent pneumonia Candida |
Hypothyroidism with TPO-Abs |
CMV+ EBV+ |
||||
| 5 | 7 | 8 | M |
VSD CoA |
Non-visible |
Polydactyly Inguinal hernia Scoliosis |
Neonatal |
ADHD ID |
Pneumonia Recurrent parotitis Septicemia Candida |
CMV+ EBV- |
|||
| 6 | 9 | 22 | F | VFI | RSV# | Ulcerative colitis |
CMV+ EBV+ |
||||||
| 7 | 14 | 16 | M | ToF | Non-visible | Scoliosis |
Depression Autism |
RSV# Prolonged viral Candida |
CMV- EBV- |
||||
| 8 | 15 | 13 | F |
IAA ASD VSD |
Non-visible | VFI | Neonatal |
Pneumonia Candida |
CMV- EBV- |
||||
| 9 | 15 | 16 | F |
TA VSD |
Non-visible |
Renal agenesis Scoliosis |
Neonatal | ID |
Pneumonia Prolonged viral |
Pollen allergy Asthma |
CMV+ EBV- |
||
| 10 | 16 | 14 | M | VFI | ADHD |
Prolonged viral Recurrent OM Candida |
Pollen allergy |
CMV- EBV+ |
|||||
| Summary 22q11Low group (N=10) | |||||||||||||
| Median | 8.1 | 15.8 |
4 Significant viral 7 Prolonged viral 3 Recurrent OM 3 Significant bacterial 6 Candida |
CMV 7+ EBV 6+ |
|||||||||
| Range | 1.2–16.0 | 8.1–22.5 | |||||||||||
| Number | 4 M, 6 F | 8 | 5 | 3 | 3 | ||||||||
| Subject-ID | TREC on NBS (copies/μl) | Age at follow-up (yrs) | Gender | Heart defect | Thymus appearance at surgery | Other malformations and deformities | Hypocalcemia | Neuro-developmental disorders | Significant infections | Autoimmunity | Allergy and asthma | CMV-IgG EBV-IgG | |
| 22q11Normal individuals | |||||||||||||
| 11 | 43 | 23 | M |
VFI Scoliosis Talipes equinovarus |
ADD Autism OCD |
RSV# Prolonged viral Pneumonia Candida |
CMV- EBV- |
||||||
| 12 | 46 | 15 | F |
IAA VSD |
Non-visible | Scoliosis | Neonatal |
ADD ID |
Pneumonia |
CMV- EBV- |
|||
| 13 | 54 | 15 | F | VFI |
ID ADHD |
Recurrent OM |
CMV- EBV+ |
||||||
| 14 | 54 | 8 | M |
VSD PA |
Non-visible |
Polycystic kidney Undescended testis |
Neonatal |
VZV# Prolonged viral Candida |
CMV- EBV+ |
||||
| 15 | 54 | 23 | F |
ToF PS |
* |
VFI Imperforate anus |
RSV# Recurrent pneumonia Prolonged viral |
Asthma |
CMV- EBV+ |
||||
| 16 | 71 | 17 | F |
VFI Scoliosis Vertebral anomaly |
ID | Coeliac disease | Asthma |
CMV- EBV+ |
|||||
| 17 | 72 | 11,5 | M | VSD | Non-visible | ID |
RSV# Pneumonia |
Asthma |
CMV- EBV+ |
||||
| 18 | 72 | 12 | F |
IAA VSD ASD |
Non-visible |
Cleft palate Multicystic kidney |
Neonatal |
ADHD ID |
RTI# Candida |
CMV- EBV+ |
|||
| 19 | 74 | 23 | F |
VFI Cleft palate Scoliosis |
Pneumonia Viral Meningitis# |
CMV+ EBV- |
|||||||
| 20 | 96 | 16 | F | VSD | Hypoplastic | Clinodactyly | ID |
Recurrent OM Candida |
Asthma | No MMR given |
CMV+ EBV+ |
||
| Summary 22q11Normal group (N=10) | |||||||||||||
| Median | 62.5 | 15.8 |
6 Significant viral 3 Prolonged viral 2 Recurrent OM 5 Significant bacterial 4 Candida |
CMV 2+ EBV 7+ | |||||||||
| Range | 43.0–96.0 | 7.7–23.1 | |||||||||||
| Number | 3 M, 7 F | 6 | 3 | 1 | 4 | ||||||||
| Summary Healthy controls (N=10) | |||||||||||||
| Median | n.a. | 15.5 |
1 Significant viral 1 Prolonged viral 1 Significant bacterial 1 Candida |
1 Coeliac disease |
CMV 6+ EBV2+ |
||||||||
| Range | 9.2–22.2 | ||||||||||||
| Number | 4 M, 6 F | 4 | |||||||||||
NBS, newborn screening; 22q11Low, individuals with 22q11.2 deletion syndrome and low levels of TRECs upon NBS; 22q11Normal, individuals with 22q11.2 deletion syndrome and normal levels of TRECs upon NBS; F, female; M, male; ASD, atrial septal defect; VSD, ventricular septal defect; IAA, interrupted aortic arch; PA, pulmonary atresia; CoA, aortic coarctation; ToF, Tetralogy of Fallot; TA, truncus arteriosus; VFI, velopharyngeal insufficiency; ID, intellectual disability; ADD, attention deficit disorder; ADHD, attention deficit hyperactivity disorder; OCD, obsessive compulsive disorder; RSV, respiratory syncytial virus; OM, otitis media; VZV, varicella zoster virus; RTI, respiratory tract infection; CMV+, anti-CMV IgG >15 AU/ml; EBV+, anti-EBV IgG S/CO >1 to capsid and/or to nuclear antigen. *Data not available. #Requiring hospitalization