Table 2

Comparison between CECR1 genetically confirmed and CECR1-negative patients

Genetically confirmed patients with DADA2 (n=15)CECR1 gene negative patients (n=21)p Value
Mean age at onset (range)2.9 years (3 months–7.5 years)7 years (2 months–16 years)0.001
Fever (%)13 (86)18 (85)NS
 Skin manifestations (%)
 Livedo reticularis
 Subcutaneous nodules
 Ulcerations of extremities
 Other		13 (86)
13 (86)
3 (20)
3 (20)
5 (33)		19 (90)
 8 (38)
15 (71)
 2 (9)
11 (52)		NS
0.008
0.004
NS
NS
 Biopsy (%)
 Polyarteritis nodosa
 Leucocytoclastic vasculitis
 Other		10 (66)
8 (53)
2 (13)
0		10 (47)
 8 (38)
 1 (4)
 2 (9)		NS
NS
NS
NS
 CNS involvement (%)
 Stroke
 Intracranial haemorrhage
 Other		10 (66)
9 (60)
1 (6)
0		 3 (14)
 2 (9)
 0
 1 (4)		0.003
0.004
NS
NS
 PNS involvement (%)
 Peripheral neuropathy
 Cranial nerve paralysis
 Hearing loss
 Other		9 (60)
5 (33)
3 (20)
3 (20)
1 (6)		 2 (16)
 2 (16)
 0
 0
 0		0.004
NS
NS
NS
NS
Hypertension (%)10 (66) 8 (38)NS
 Gastrointestinal manifestations (%)
 Diarrhoea
 Abdominal pain
 Bowel ischaemia
 Other		5 (33)
2 (13)
0
2 (13)
2 (13)		 9 (42)
 2 (9)
 8 (38)
 0
 2 (9)		NS
NS
NS
NS
NS
 Immunologic manifestations (%)
 Hypogammaglobulinaemia
 Recurrent infections		6 (40)
4 (26)
2 (13)		 4 (21)
 2 (9)
 3 (14)		NS
NS
NS
Hepatomegaly (%)4 (26) 8 (38)NS
Splenomegaly (%)3 (20) 6 (28)NS
Generalised adenopathy (%)1 (6) 1 (4)NS
 Articular manifestations (%)
 Arthralgia
 Arthritis		5 (33)
5 (33)
2 (13)		13 (61)
13 (61)
 6 (28)		NS
NS
NS

  • CNS, central nervous system; PNS, peripheral nervous system.