Table 1.

Demographics of patients included in this study (n = 37).

	Pathogenic variant detected (n = 15)	Pathogenic variant not detected (n = 22)	p-value
Sex			0.514
Male	10 (66.7)	12 (54.5)
Female	5 (33.3)	10 (45.5)
Age (years)
At symptom onset			0.209
<1	7 (46.7)	7 (31.8)
1–4	4 (26.7)	9 (40.9)
5–19	2 (13.3)	6 (27.3)
>20	2 (13.3)	0 (0.0)
At diagnosis			0.004
<1	7 (46.7)	4 (18.2)
1–4	2 (13.3)	11 (50.0)
5–19	2 (13.3)	7 (31.8)
>20	4 (26.7)	0 (0.0)
Category			0.006
Disease of immune dysregulation	6 (40.0)	4 (18.2)
Periodic fever syndrome	0 (0.0)	10 (45.5)
Predominant antibody deficiency	3 (20.0)	2 (9.1)
Combined immunodeficiency	2 (13.3)	1 (4.5)
Immunodeficiencies affecting cellular and humoral immunity	2 (13.3)	0 (0.0)
Congenital defects of phagocyte number, function, or both	0 (0.0)	2 (9.1)
Congenital defects of phagocyte	1 (6.7)	1 (4.5)
Phenocopies of primary immunodeficiency	1 (6.7)	0 (0.0)
Defects in intrinsic and innate immunity	0 (0.0)	1 (4.5)
Auto-inflammatory disorders	0 (0.0)	1 (4.5)
History of recurrent, persistent infections			0.011
Yes	14 (93.3)	11 (50.0)
No	1 (6.7)	11 (50.0)
Family history			0.136
Yes	4 (26.7)	1 (4.5)
No	11 (73.3)	21 (95.5)