Table 1.
Clinical and laboratory features of IPEX and IPEX-like disorders.
| IPEX | CD25 | Stat5b | STAT-1 | ITCH | |
|---|---|---|---|---|---|
|
| |||||
| Autoimmunity | |||||
| Ezcema | +++ | +++ | ++ | ++ | ++ |
| Enteropathy | +++ | +++ | ++ | ++ | ++ |
| Endocrinopathy | +++ | ++ | + | ++ | ++ |
| Allergic Disease | +++ | + | + | ++ | ++ |
| Cytopenias | ++ | ++ | ++ | − | |
|
| |||||
| Lung Disease | + | ++ | +++ | + | +++ |
|
| |||||
| Infections | |||||
| Yeast | − | ++ | − | +++ | − |
| Herpes virus | − | +++(EBV/CMV) | ++(VZV) | ++ | − |
| Bacterial | +/− | ++ | ++ | ++ | + |
|
| |||||
| Associated features | None | None | Growth failure | Vascular anomalies | Dysmorphic Growth failure |
|
| |||||
| Serum Immunoglobulins | Elevated | Elevated or normal | Elevated or normal | Low, normal or high | Elevated |
|
| |||||
| Serum IgE | Elevated | Normal or elevated | Normal or elevated | Normal or mildly elevated | Elevated |
|
| |||||
| CD25 expression | Normal | Absent | Normal or low | Normal | Not tested |
|
| |||||
| CD4+CD45RO | Elevated | Elevated | Elevated | Normal or high | Not tested |
|
| |||||
| Foxp3 expression | Absent or normal | Normal or low | Normal or low | Normal | Not tested |
|
| |||||
| IGF-1, IGFBP-3 | Normal | Normal | Low | Normal | Not tested |
|
| |||||
| Prolactin | Normal | Normal | Elevated | Normal | Not tested |
EBV, Epstein Barr Virus; CMV, cytomegalovirus; VZV, varicella zoster virus