Table 8 Clinical and Laboratory Features Of Rare Genetic Disorders that can be Confused With A-T (reviewed in [210] and [14])
| Â | A-T | AOA1 | AOA2 | ATLD | NBS |
|---|---|---|---|---|---|
Human gene | ATM | APTX | SETX | MRE11 | NBS1 |
Radiosensitivity (type of DNA damage) | Yes (DSB) | Yes (SSB) | No (SSB?) | Yes (DSB) | Yes (DSB) |
Immune deficiency | Yes | No | No | Mild [211] | Yes |
Neurodegeneration | Yes | Yes | Yes | Yes | No |
Early Neurodevelopment | Usually Normal | Normal | Normal | Normal | Microcephaly & Cognitive Impairment |
Cancer risk | Yes | No | No | Unknown | Yes |
Albumin | Normal | Low | Normal | Normal | Normal |
AFP | High | Normal | High | Normal | Normal |