Table 1.
Clinical and laboratory features of IPEX.
| IPEX: Clinical features (32) | IPEX: Laboratory features (36) | ||||
|---|---|---|---|---|---|
| N | Percentage (%) | Median | IQR | ||
| Total patients | 95 | 100 | Total WBC × 1,000 (cell/μl)† | 11.7 | 9.9–16.7 |
| Enteropathy | 85 | 89.5 | Total lymphocytes × 1,000 (cell/μl) | 2.4 | 1.3–3.2 |
| Eczema | 71 | 74.7 | Total neutrophils × 1,000 (cell/μl) | 2.2 | 0.2–4.9 |
| Alopecia | 8 | 8.4 | Total eosinophils × 1,000 (cell/μl)† | 1.1 | 0.5–3.1 |
| Growth failure | 71 | 74.7 | Total T CD3+ × 1,000 (cell/ μl) | 2.7 | 1.2–4.3 |
| T1DM | 42 | 44.2 | Total T CD4+ × 1,000 (cell/ μl) | 1.6 | 0.6–3.1 |
| Thyroiditis | 16 | 16.8 | Total T CD8+ × 1,000 (cell/ μl) | 0.7 | 0.4–1 |
| Severe infections* | 15/34* | 44.0 | Total CD19+ B cells × 1,000 (cell/μl) | 0.6 | 0.1–0.8 |
| Nephropathy | 33 | 34.7 | Total NK cells (cell/μl) | 200 | 98–566 |
| AIHA | 26 | 27.4 | Total IgG (mg/dl) | 656 | 257–873 |
| Thrombocytopenia | 12 | 12.6 | Total IgA (mg/dl) | 29 | 8–94 |
| Neutropenia | 6 | 6.3 | Total IgM (mg/dl) | 52.6 | 32–182 |
| Hepatitis | 19 | 20.0 | Total IgE (IU/ml)† | 1,670 | 230–3,698 |
| Neurologic | 16 | 16.8 | Positive autoantibodies (N, %) | 153/272 | 71% |
| Food allergies | 13 | 13.7 | |||
| Pneumopathy | 9 | 9.5 | |||
| Lymphoproliferation | 9 | 9.5 | |||
| Arthritis | 8 | 8.4 | |||
| Pancreatitis | 2 | 2.1 | |||
| Cardiac | 2 | 2.1 | |||
| Ocular | 2 | 2.1 | |||
| Months at onset (median, range) | 2 | 0–11.3 | |||
Data are reported from a recent cohort (32) and review (36). N, number; IQR, interquartile range; T1DM, type 1 diabetes mellitus; AIHA, autoimmune hemolytic anemia; WBC, white blood cells; NK, natural killer.
*
Data about severe infections refers to patients who did not yet start immunosuppressive drugs or did not yet undergo hematopoietic stem cell transplantation.
†
Higher compared to healthy ranges for infants.