Table 3.
Factors associating with the identification of predicted disease-causing genetic variants
| Variable | Predicted pathogenic variant (N = 45) | No pathogenic variant (N = 249) | OR (95% CI) | p value+ |
|---|---|---|---|---|
| Familial history of PID | 16 | 18 | 7.08 (3.26–15.39) | <0.0001*** |
| Consanguinity | 51 | 2 | 5.44 (2.90–82.33) | 0.0011** |
| Age group at diagnosis2 | ||||
| 0–4 years | 7 | 7 | 5.9 (1.96–17.76) | 0.0028** |
| 5–18 years | 14 | 48 | 1.72 (0.85–3.49) | 0.17 (ns) |
| >18 years | 23 | 177 | 0.32 (0.17–0.62) | 0.0009*** |
| CVID | 25 | 202 | 0.29 (0.15–0.57) | 0.0004*** |
| CID | 13 | 16 | 5.92 (2.61–13.43) | <0.0001 *** |
| Unclassified antibody deficiency | 4 | 17 | 1.33 (0.43–4.16) | 0.54 (ns) |
| Infections only disease | 14 | 94 | 0.74 (0.38–1.47) | 0.5 (ns) |
| Lymphadenopathy | 8 | 36 | 1.28 (0.55–2.97) | 0.65 (ns) |
| Splenomegaly | 10 | 64 | 0.83 (0.39–1.76) | 0.71 (ns) |
| Enteropathy | 10 | 17 | 3.90 (1.65–9.20) | 0.003** |
| ILD | 4 | 16 | 1.42 (0.45–4.47) | 0.52 (ns) |
| Organ-specific autoimmunity | 20 | 38 | 4.86 (2.46–9.61) | <0.0001 *** |
| Autoimmune cytopenia3 | 9 | 35 | 1.85 (0.86–3.98) | 0.13 (ns) |
| Atopic disease4 | 9 | 39 | 1.35 (0.60–3.02) | 0.51 (ns) |
| Granulomatous disease | 3 | 22 | 0.74 (0.21–2.57) | 0.78 (ns) |
| Malignancy | 4 | 24 | 0.92 (0.30–2.78) | 1 (ns) |
CI, confidence interval; CID, combined immunodeficiency; CVID, common variable immunodeficiency; ILD, interstitial lung disease; ns, not significant; OR, odds ratio; PID, primary immunodeficiency disorder; SPAD, specific antibody deficiency.
+
p < 0.05.
**
p < 0.01.
***
p < 0.001.
1
Including 3 patients from the same family.
2
Analysis based on 276/294 studied patients with the known year of diagnosis.
3
Autoimmune hemolytic anemia (AIHA) and/or immune thrombocytopenic purpura (ITP).
4
A topic dermatitis and/or allergic rhinitis and/or asthma.