Table 5. Comparison of the number and percentage of correct answers for the questions about specific signs of PIDs.
| N | Question | 2016 | 2019 | ||
|---|---|---|---|---|---|
| n = 82 | n = 67 | ||||
| n | % | n | % | ||
| 1. | Telangiectasia may be specific to: | ||||
| a) hepatic insufficiency, | 50 | 61.0 | 56 | 83.6 | |
| b) ataxia-telangiectasia syndrome (Louis-Bar syndrome) | 44 | 53.7 | 55 | 82.1 | |
| 2. | The absence of thymus confirms Di George syndrome | 41 | 50.0 | 39 | 58.2 |
| 3. | Numerous (6 and more) of ‘coffee-with-milk’ colored spots are specific to: | ||||
| a) Nijmegen breakage syndrome (NBS) | 28 | 34.1 | 59 | 88.1 | |
| b) Louis-Bar syndrome | 15 | 18.3 | 58 | 86.6 | |
| c) Bruton's agammaglobulinemia | 52 | 63.4 | 53 | 79.1 | |
| 4. | Dysmorphic facial features are specific to: | ||||
| a) common variable immunodeficiency (CVID) | 64 | 78.0 | 55 | 82.1 | |
| b) DiGeorge syndrome | 31 | 37.8 | 57 | 85.1 | |
| c) Nijmegen breakage syndrome | 27 | 32.9 | 61 | 91.0 | |
| 5. | Inflammation+ thrombocytopenia + eczema may be the signs of: | ||||
| a) Wiskott-Aldrich syndrome | 55 | 67.1 | 61 | 91.0 | |
| b) atopic dermatitis | 58 | 70.7 | 59 | 88.1 | |
| 6. | In cases of Nijmegen syndrome chest X-ray examination is allowed | 9 | 11.0 | 37 | 55.2 |
| 7. | Normal levels of leukocytes (WBC), hemoglobin, platelets, HCT are sufficient to exclude neutropenia | 66 | 80.5 | 52 | 77.6 |
| 8. | AFP (alpha-fetoprotein) appears in high concentrations in A-T syndrome | 39 | 47.6 | 47 | 70.1 |
| 9. | Children diagnosed with microcephaly should undergo genetic testing | 30 | 36.6 | 25 | 37.3 |
| Total: | 609 | 49.5 | 774 | 77.0* | |
*P<0.0001