Table 2.
Clinical characteristics of patients with 18q del syndrome.
| Clinical feature | 18qdel (n = 27) | T1D (n = 24) | Healthy controls (n = 24) |
|---|---|---|---|
| Age (years)* | 11.9 (4.0–33.5) | 12.3 (4.0–18) | 11.6 (4.2–18) |
| Gender (F/M) | 15/12 | 13/11 | 12/12 |
| 18q deletion type | |||
| Terminal | 24/27 (88.9%) (including 3 cases with ring 18) | NA | NA |
| Interstitial | 3/27 (11.2%) | ||
| Ring 18 | 3/27 (11.2%) | ||
| De novo | 22/27 (81.5%) | ||
| Mosaic | 2/27 (7.0%) | ||
| Autoimmune comorbidities | 14/27 (51.8%) | 4 (16.7%) | 0 |
| Autoimmune thyroiditis | 14/27 (51.8%) | 3 (12.5%) | |
| Hashimoto thyroiditis | 13/27 (48.1%) | ||
| Grave’s disease | 1/27 (3.7%) | ||
| Type 1 diabetes | 2/27 (7.4%) | ||
| Vitiligo | 1/27 (3.7%) | 1 (4.1%) | |
| Alopecia areata | 3/27 (11.2%) | ||
| Autoimmune thrombocytopenia | 1/27 (3.7%) | ||
| Allergy | 9/27 (33.4%) | 6 (25%) | 0 |
| Allergic rhinitis and conjunctivitis | 0/27 (0%) | 5 (20.8%) | |
| Eczema | 6/27 (22.3%) | 1 (4.1%) | |
| Asthma | 0/27 (0%) | 1 (4.1%) | |
| Food allergy | 4/27 (%) | ||
| Anaphylaxis | 1/27 (3.7%) | ||
| Urticaria | 1/27 (3.7%) | ||
| Symptoms of immunodeficiency | 13/27 (48.1%) | 0 | 0 |
| Recurrent respiratory tract infections | 10/27 (37%) | ||
| Recurrent urinary tract infections | 5/27 (18.5%) | ||
| Recurrent gastrointestinal tract infections | 5/27 (18.5%) | ||
| Sepsis | 3/27 (11.2%) | ||
| Immunoglobulin deficiency | 22/25 (88%) | ||
| IgAD | 5/25 (20%) | ||
| sIgAD | 3/25 (12%) | ||
| IgMD | 10/25 (40%) | ||
| sIgMD | 2/25 (8%) | ||
| IgGD | 8/25 (32%) | ||
| IgED | 13/25 (52%) | ||
| sIgED | 6/25 (24%) | ||
| CVID-like phenotype | 8/25 (32%) | ||
| IgG subclass deficiency | 8/19(42.1%) | ||
| IgG1 | 2/19 (10.5%) | ||
| IgG2 | 0/20 (0%) | ||
| IgG3 | 2/23 (8.6%) | ||
| IgG4 | 5/23 (21.7%) | ||
*p-value > 0.05. NA, not applicable.