Table 1 Characteristics of children with IEI. Comparison between people with Disease-causing variants versus those with variants of unknown significance and negative results in genetic testing.

From: Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing

Variable

All n = 92

Disease-causing findings n = 37 (40.2%)

Negative or VUS n = 55 (59.7%)

p value

Gender male n (%)

46 (50%)

18 (48.6%)

28 (50.9%)

0.803

Age at genetic testing, years: median (IQR)

4.38 (2.0–12.8)

5.50 (2.1–12.3)

4.07 (2.0–13.0)

0.621

Age at symptom onset, years: median (IQR)

1.75 (0.7–4.0)

1.00 (0.2–2.0)

3.0 (0.9–7.0)

0.001

Time from onset to genetic testing, years: median (IQR)

1.67 (0.3–4.8)

4.12 (0.3–10)

1.07 (0.3–2.3)

0.001

Deceased

10 (9.2%)

7 (18.9%)

3 (5.4%)

0.046

Similar family history

19 (20.6%)

15 (40.5%)

4 (7.2%)

0.000

Genetic test performed

 Gene panel

43 (46.7%)

21 (56.7%)

22 (40.0%)

0.249

 WES

29 (31.5%)

10 (27.0%)

19 (34.5%)

0.447

 WGS

20 (21.7%)

7 (18.9%)

13 (23.6%)

0.591

Clinical IEI diagnosis category7

 Autoinflammatory disorders

25 (27.2%)

4 (10.8%)

21 (38.1%)

0.004

 Combined immunodeficiencies with associated or syndromic features

8 (8.7%)

3 (8.1%)

5 (9.0%)

0.882

 Complement Deficiencies

1 (1.1%)

1 (2.6%)

0

0.413

 Congenital defects of phagocyte number or function

19 (20.7%)

13 (35.1%)

6 (10.9%)

0.011

 Defects in intrinsic and innate immunity

1 (1.1%)

1 (2.7%)

0

0.220

 Diseases of immune dysregulation

18 (19.6%)

8 (21.6%)

10 (18.1%)

0.683

 Immunodeficiencies affecting cellular and humoral immunity

4 (4.3%)

0

4 (7.2%)

0.146

 Phenocopies of inborn errors of immunity

4 (4.3%)

3 (8.1%)

1 (1.8%)

0.299

 Predominantly antibody deficiencies

12 (13%)

4 (10.8%)

8 (14.5%)

0.756

Impact of genetic testing

 Overall impact of genetic testing

40 (43.5%)

31 (83.7%)

9 (16.3%)

0.000

 Specific monitoring

40 (43.5%)

31 (83.7%)

9 (16.3%)

0.000

 Specific treatment

35 (38.0%)

27 (72.9%)

8 (14.54%)

0.000

 HSTC successful/waiting

13 (14.1%)

13 (35.1%)

0

0.000

  1. HSCT hematopoietic stem cell transplant; IEI – inborn error of immunity; IQR – interquartile range Q1–Q3; n—number, SD – standard deviation; VUS—variants of unknown significance; WES – whole exome sequencing; WGS – whole genome sequencing.
  2. Significant values are in [bold].
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