Table 3:
Outcomes of 55 NBS cases of T cell lymphopenia initially classified as idiopathic.8
| Outcome | Number of infants |
Diagnosis, Comments |
|---|---|---|
| Received a diagnosis of a syndrome or single gene disorder affecting T cells | 22 | 9 DiGeorge 5 AT 3 diabetic embryopathy 2 CHARGE 1 each NBS, EXTL3, RAC2 |
| TCL resolved to normal range for age | 11 | In good health at last contact 1 in utero stress; maternal viral infection in late pregnancy |
| TCL improving at last contact | 2 | In good health |
| Persistent TCL | 13 | 1 HCT for low T cells and anemia 1 healthy but with nail dystrophy, heterozygous FOXN1 variant Others in good health |
| Died | 1 | Respiratory failure |
| Status unknown | 6 | Lost to follow-up |